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SbyS Biochem

QuestionAnswer
At which end of the tRNA is the aa bound? The amino acid is covalently bound to the 3' end of the tRNA.
Can RNA polymerase initiate chains? Yes.
Define transition. Substituting purine for purine or pyrimidine for pyrimidine.
Define transversion. Substituting purine for pyrimidine or vice versa.
Define tRNA wobble. Accurate base pairing is required only in the first 2 nucleotide positions of an mRNA codon, so codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid.
Describe Euchromatin Less condensed (vs. Heterochromatin), transcriptionally active
Describe Heterochromatin Condensed, transcriptionally inactive
Describe key structural differences between nucleotides. 1) Purines (A,G) have 2 rings. 2) Pyrimidines (C,T,U) have 1 ring 3) Guanine has a ketone. 4) Thymine has a methyl
Describe single-strand, excision repair. Excision repair-specific glycosylase recognizes and removes damaged base. Endonuclease makes a break several bases to the 5' side. Exonuclease removes short stretch of nucleotides. DNA polymerase fills gap. DNA ligase seals.
Describe the difference between Eukaryotic Vs. Bacterial, viral and plasmid origin of replications Eukaryotic genome has multiple origins of replication. Bacteria, viruses and plasmids have only one origin of replication.
Describe the main difference in eukaryotic and prokaryotic synthesis of RNA. Eukaryotes have 3 different RNA polymerases ('I, II, III synthesize RMT') and prokaryotes have 1 RNA polymerase (which makes all 3 kinds of RNA).
Describe the method by which introns are removed from primary mRNA transcript. Introns are precisely spliced out of primary mRNA transcripts. A lariat-shaped intermediate is formed. Small nuclear ribonucleoprotein particles (snRNP) facilitate splicing by binding to primary mRNA transcripts and forming spliceosomes.
Describe the number of bonds per purine-pyrimidine pair. Which is stronger? G-C bond (3 H-bonds) A-T bond (2 H-bonds G-C bond is stronger
Describe the structure of Chromatin. Condensed by (-) charged DNA looped around (+) charged histones (nucleosome bead). H1 ties the nucleosome together in a string (30 nm fiber)
Does RNA polymerase have a proof reading function? No.
How do purines and pyrimidines interact, molecularly? Purines and pyrimidines pair (A-T, G-C) via H-bonds
How does RNA polymerase II open DNA? RNA polymerase II opens DNA at promoter site (A-T rich upstream sequence- TATA and CAAT)
How is the original RNA transcript processed in eukaryotes? (3) 1) Capping on 5' end (7methyl G) 2)Polyadenylation on 3' end ( =200 As) 3) Splicing out of introns
In eukaryotes, what must occur before an newly synthesized RNA transcript leaves the nucleus? Only processed RNA is transported out the nucleus of eukaryotes.
Name 3 types of RNA 1) mRNA 2) rRNA 3) tRNA
Name the charged histones around which (-) charged DNA loops (nucleosome core). H2A, H2B, H3, H4 histones
Name the enzyme responsible for the synthesis of RNA in prokaryotes. RNA polymerase
Name the enzymes involved in ss-DNA repair. (5) 1) specific glycosylase. 2) endonuclease. 3) exonuclease. 4) Dan polymerase. 5) DNA ligase.
Name the enzymes responsible for the synthesis of eukaryotic RNA. RNA polymerase I RNA polymerase II RNA polymerase III
What are exons? Exons contain the actual genetic information coding for a protein
What are four types of mutations that can occur in DNA? 1) Silent 2) Missense 3) Nonsense 4) Frame shift
What are introns? Introns are intervening noncoding segments of DNA
What are the four features of the Genetic Code? 1) Unambiguous 2) Degenerate 3) Commaless, non-overlapping 4)Universal
What atoms link aa in a protein chain? Amino acids are linked N to C
What changes occur in DNA structure during mitosis? In mitosis, DNA condenses to form mitotic chromosomes
What codon sequence is found at the 3' end of all tRNAs? All tRNAs, both eukaryotic and prokaryotic, have CCA at 3' end.
What direction is DNA synthesized in? 5' > 3'. Remember that the 5' of the incoming nucleotide bears the triphosphate (energy source for the bond). The 3' hydroxyl of the nascent chain is the target.
What direction is protein synthesized in? Protein synthesis also proceed in the 5' to 3' (5' > 3')
What direction is RNA synthesized in? 5' > 3'. Remember that the 5' of the incoming nucleotide bears the triphosphate (energy source for the bond). The 3' hydroxyl of the nascent chain is the target.
What does the AUG mRNA sequence code for? AUG codes for methionin, which may be removed before translation is completed. In prokaryotes the initial AUG codes for a formyl-methionin (f-met).
What does the P in P-site stand for? What does the A in A-site stand for? P-site: peptidyl; A-site: aminoacyl;
What does the statement, 'the genetic code is commaless' mean? What is the exception to this rule? The code is non-overlapping. The exception are some viruses
What does the statement, 'the genetic code is degenerate' mean? More than one codon may code for the same amino acid
What does the statement, 'the genetic code is unambiguous' mean? Each codon specifies only one amino acid
What does the statement, 'the genetic code is universal' mean? What are the exceptions (4)? The same code is used in all lifeforms. The exceptions are 1. mitochondria, 2. archaeobacteria, 3. Mycoplasma, 4. some yeasts
What enzyme is responsible for 'charging' tRNA? How does it work? Aminoacyl-tRNA synthetase. This enzyme (one per aa, uses ATP) scrutinizes aa before and after it binds to tRNA. If incorrect, bond is hydrolyzed by synthetase. The aa-tRNA bond has energy for formation of peptide bond.
What inhibits RNA polymerase II? alpha-amanitin inhibits RNA polymerase II
What is a conservative missense mutation? Mutation results in a different aa encoded, but that new aa is similar in chemical structure to the original code
What is a frameshift mutation? What is usually the effect on the encoded protein? A change in DNA resulting in misreading of all nucleotides downstream. Usually results in a truncated protein.
What is a missense mutation? Mutation results in a different aa encoded.
What is a nonsense mutation? A change in DNA resulting in an early stop codon.
What is a promoter? Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus.
What is a silent mutation? What usually causes a silent mutation? Mutation results in the same aa encoded. Often the base change is in the 3rd position of the codon
What is a snRNP? What is its function? snRNP = small nuclear ribonucleoprotein. snRNPs facilitate splicing by binding to primary mRNA transcripts and forming spliceosomes.
What is an enhancer? Stretch of Dan that alters gene expression by binding transcription facts. May be located close to, far from, or even within (an intron) the gene whose expression it regulates.
What is an Okazaki fragment? The discontinuous DNA synthesized on the lagging strand during DNA replication
What is hnRNA? hnRNA = heterogeneous nuclear RNA The initial RNA transcript is called hnRNA
What is responsible for the accuracy of amino acid selection during peptide synthesis? Aminoacyl-tRNA synthetase and binding of charged tRNA to the codon are responsible for accuracy of amino acid selection.
What is the broad classification of nucleotides? (2) Purines (A, G) and Pyrimidines (C, T, U)
What is the difference between hnRNA and mRNA? hnRNA = the initial RNA transcript mRNA = capped and tailed transcript
What is the difference between thymine and uracil? Uracil found in RNA Thymine found in DNA
What is the function of DNA ligase during DNA Replication? DNA ligase seals synthesized DNA into a continuous strand
What is the function of DNA polymerase during DNA Replication? (2) 5'®3' exonuclease activity of DNA polymerase I degrades RNA primer; 3'®5' exonuclease activity of DNA polymerase 'proofreads' each added nucleotide.
What is the function of DNA topoisomerase during DNA Replication? DNA topoisomerases create a nick in the helix to relieve supercoils
What is the function of primase in DNA Replication? Primase makes an RNA primer on which DNA polymerase can initiate replication.
What is the function of RNA polymerase I? RNA polymerase I makes rRNA
What is the function of RNA polymerase II? RNA polymerase II makes mRNA
What is the function of RNA polymerase III? RNA polymerase III makes tRNA
What is the mRNA initiation codon? AUG, or rarely GUG
What is the mRNA stop codons? (3) UGA (U Go Away) UAA (U Are Away) UAG (U Are Gone)
What is the result of 'mischarged' tRNA? A mischarged tRNA (bound to wrong aa) reads usual codon but inserts wrong amino acid.
What is the role of endonuclease in ss-DNA repair? Endonuclease makes a break several bases to the 5' side.
What is the role of excision repair-specific glycosylase in ss-DNA repair Recognizes and removes damaged base.
What is the role of exonuclease in ss-DNA repair? Exonuclease removes short stretch of nucleotides.
What prevents an incorrect aa-tRNA pairing? If incorrect, the aa-tRNA bond is hydrolyzed by aminoacyl-tRNA synthetase.
What role does histone H1 play in chromatin structure? H1 ties the nucleosome together in a string (30nm fiber)
What supplies the energy for formation of peptide bond? The aa-tRNA bond has energy for formation of peptide bond.
What would most likely be the result of a mutation of the promoter sequence? Promoter mutation commonly results in dramatic decrease in amount of gene transcribed.
When is ATP used in protein synthesis? When is GTP used in protein synthesis? ATP is used in tRNA charging, whereas GTP is used in binding of tRNA ribosome and for translocations.
When is recombination involved in DNA repair? If both strands are damaged, repair may proceed via recombination with undamaged homologous chromosome.
Where does RNA processing occur in eukaryotes? RNA processing occurs in the nucleus.
Which is the largest type of RNA? mRNA (massive)
Which is the most abundant type of RNA? rRNA (rampant)
Which is the smallest type of RNA? tRNA (tiny)
Which nucleotide position in the codon has room for 'wobble'? Codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid
How do you do a Northern Blot? Electrophorese RNA on a gel transfer to a filter expose filter to a labeled DNA probe visualize the DNA probe annealed to the desired RNA
How do you do a Southern Blot? Electrophorese DNA on a gel transfer to a filter and denature the DNA expose to a labeled DNA probe visualize probe annealed to desired DNA fragment
How do you do a Southwestern blot? Separate protein by electrophoresis transfer to a filter expose to a labeled DNA probe visualize DNA bound to desired protein
How do you do a Western Blot? Separate protein by electrophoresis transfer to a filter expose to a labeled antibody visualize Ab bound to desired protein
How do you do PCR? (4 steps) 1. Heat DNA to denature. 2. Cool DNA and let the primers aneal. 3. Heat-stable polymerase replicates DNA following each premer 4. Repeat
What are some genetic diseases detectable by PCR? (11) SCID, Lesh-Nyhan, CF, familial hypercholesterolemia retinoblastoma, sickle cell, Bthalassemia, hemophilia A and B, von Willebrand's dz, lysosomal dz, and glycogen stroage dz
What gene is involved in cystic fibrosis? CFTR
What gene is involved in familial hypercholesterolemia? LDL-R
What gene is involved in Lesh-Nyhan syndrome? HGPRT
What gene is involved in retinoblastoma Rb
What gene is involved in SCID? adenosine deaminase
What gene is involved in Sickle cell and ?-thal? ? globin gene
What is an ELISA (enzyme linke immunosorbant assay)? Rapid lab test in which an antibody or an antigen (usually collected from a patient) is exposed to an Ag or Ab liked to to an enzyme. A positive test results in a Ag-Ab match and is usually indicated by a color change
What is PCR? Lab procedure used to synthsize many copies of a desired fragment of DNA
Von Geirke's disease is a result of? Glucose-6-phosphatase deficiency; also known as Type I Glycogen Storage disease
A build up of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells and tissues is found in what disease Niemann-Pick disease
A child is born with multiple fractures and blue sclera what is the diagnosis Osteogenesis imperfecta;disease of abnormal collagen synthesis resulting in fractures and translucent Conn tiss over chorioid causing the blue sclera
A congenital deficiency of tyrosinase would lead to Albinism, can't synthesize melanin from tyrosine
A patient presents with cataracts, hepatosplenomegaly, and mental retardation, what is the Dx? Galactosemia
A patient presents with corneal clouding and mental retardation that is, based on family history, inherited in an Autsomal recessive pattern, you impress your intern with a Dx of Hurler's syndrome
A patient presents with 1. Hyperextensible skin 2. Tendency to bleed 3. Hypermobile joints you astutely Dx them with Ehlers-Danlos syndrome
Absence of Galactosylceramide Betagalactosidase leads to thebuild up of what compound in what disease accumulation of galactocerebroside in the brain; Krabbe's disease
Absence of hexosaminidase A results in the acumulation of what molecule that is characteristic of what disease GM2-ganglioside accumulation; Tay-Sachs disease
albinism increase risk of developing what skin cancer
Autosomal dominant defects will effect what members of a family male and female
Autosomal recessive disorders often result in what kind of defect/deficiencie? enzyme deficiencies
Autosomal recessive disorders usually effect how many generations in a family? usually only one generation
Bloom's syndrome is characterized by sensitivity to what as a result of sensitivity to radiation as a result of a DNA repair defect
Creatine and Urea are both made from? Arginine
Defects in structural genes often follow what pattern of inheritance? Autosomal dominant
Defiency of arylsulfatase A results in the accumulation of what molecule where sulfatide in the brain, kidney, liver, and peripherla nerves. Characteristic of Metachromatic Leukodystrophy
define genetic imprinting when differences in phenotype depend on whether the mutation is of paternal or maternal origin
define incomplete penetrance when not all individuals with a mutant genotype show the mutant phenotype
define Linkage Disequilibrium the tendency for certain alleles at two linked loci to occur together more often thatn expected by chance, as measured in a population
define pleiotropy one gene has more than one effect on an individual's phenotype, autosomal dominant defects are oftne pleiotropic
Define variable expression nature and severity of the phenotype varies from one individual to another
Fanconi's anemia is caused by what typr of agents cross-linking agents
Ganglioside is made up of what Ceramide + oligosacharide + sialic acid
Gaucher's disease is caused by a deficiency of Beta-glucocerebrosidase
Glucocerebroside accumulation in the brain, liver, spleen, and bone marrow are characteristic of Gaucher's disease
Hglycine is used to make what important compound Porphyrin which is then used to make Heme
Histamine is synthesized form what compound Histidine
How does adenosine deaminase defiency cause SCID Purine salvage pathway. ADA normal converts adenosine to inosine without it ATP & dATP build up inhibiting ribonucleotide reductase which prevents DNA synthesis lowering lymphocyte production
How is Lesch-Nyhan syndrome inheritied andwhat is the result and symptoms X-linked recessive; increase in uric acid production. Retardation, self mutalation, aggression, hyperuricemia, gout, and choreathetosis
Hunter's syndrome is characterised by what biochemical problem and how is it inherited deficiency of iduronate sulfatase; X-linked recessive mild form of Hurler's
In ataxia-telangiectasia DNA damage caused by what source cannot be repaired X-rays
in G6PD deficiency the decrease in NADPH can lead to _____ if exposed to _____ hemolytic anemia;oxidizing agents( fava beans, sulfonamides, primaquine) and antituberculosis.
In PKU what builds up and what can be found in the urine phenyalanine builds upe leading to phenylketones in the urine
In PKU, what amino acid becomes essential tyrosine.
in the Hardy-Weinberg equation, what are the p and q and what is 2pq p and q are each separate alleles; 2pq = heterozygote
no male to male transmission is characteristic of what type of genetic disorders? X-linked recessive
Pompe's disease is caused by a defect in? lysosomal alpha-1,4glucosidase defiency
Sickle cell anemia is caused by what defect and what is it's prevalence AR single missense mutation in the beta globin; 1:400 blacks
Siclkle cell anemia patients often present with recurrent painful crisis and increased susceptibility to infections
Skin sensitivity to UV light secondary to a DNA repair defect is characteristic of what? xeroderma pigmentosum
Sphingosine + fatty acid yields ceramide
the COL1A gene mutation is associated with what disease and what type of mutation is this Osteogenesis imperfecta;dominant negitive mutation
The main defect in Ataxiatelangiectasi is a ___ DNA repair defect
The most common form of Osteogenesis imperfecta has what genetic problem and inheritance abnormal Collagen Type I synthesis;Autosomal dominant
the transporter for what amino acids is defective in cystinuria COLA: Cys,Ornithine, Lysine and Arginine
Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side? dimers are on same side
Tryptophan can be used to make what three chemicals Niacin, 'Serotonin, melatonin
Type III Glycogen storage disease is a defiency of ? deficiency of debranching enzyme alpha-1,6glucosidase
What is the cause Tx and symptoms of Lactase intolerance? Lactase defiency, avoid diary products or add lactse pills to diet symptoms bloating, cramps, osmotic diarrhea
What % of kids born to father with mitochondrial myopathie will be effected none, mitochondrial myopathies are inherited from mitochondria which is only inherited from the mother
What are the clinical signs of Krabbe's disease optic atrophy, spasticity, early death
What are the components of Cerebroside Ceramide + glucose/ galactose
What are the components of Sphingomyelin Ceramide + phosphorylcholine
What are the components of sphingosine serine + palmitate
What are the findings and treatment of pyruvate dehydrogenase neurologic defects; increase intake of ketogenic nutrients
What are the findings in McArdles's disease and what is the problem increased glycogen in skeletal muscle due to a Glycogen phosphorylase defiency strenuous exercise cause myoglobinuria and painful cramps
What are the findings in PKU and what is the treatment Mental retardation, fair skin, eczema, musty body odor Tx. Decreasee phenylalanin (nutrasweet) and increase tyrosine
What are the findings in Pompe's disease and what is it alternate name Cardiomegaly and systemic findings, leading to early death. Pompe's trashes the Pump. (Heart, Liver and muscle) Type II Glycogen storage disease
What are the findings in Von Gierke's disease severe fasting hypoglycemia, increased glycogen in the liver
What are the four assumptions of the HardyWeinberg equilibrium 1.There is no mutation occuring at the locus 2. There is no selection for any of the geno types at the locus 3. Random mating 4. no migration in or out
What are the purely ketogneic amino acids lysine and leucine
What are the signs and symptoms of essential fructosuria asymptomatic, benign, Fructose appears in blood and urine
what are the signs and symptoms of Homocystinuria Homocysteine accumulates in urine and cystine becomes essential Methionine and it's metabolites build up in blood Mental retardation, osteoporosis, dislocation of the lens
What are the symptoms of Alkaptonuria Dark Urine from alkapton bodies; also connective tissue is dark, may have arthralgias. Bengin disease
What are the symptoms of Fructose intolerance hypoglycmeia, jaundice, cirrhosis
What are the symptoms of Maple syrup Urine disease CNS defects, mental retardation and death. Urine smells like maple syrup
What biological chemicals are derived form phenylalanine tyrosine, thyroxine Dopa dopamine NE, Epinephrine and Melanin
What causes Essential Fructosuria defect in fructokinase
What causes Lesch-Nyhan syndrome Absence of HGPRTase, (normally converts hypoxanthine to IMP and guanine to GMP) Lacks Nucleotide Salvage (LNS)purines
What do melanin and Norepinephrine have in common both derived directly from dopamine Phenylalanine to tyrosine to Dopa to Dopamin
What enzyme defiencies are associated with hemolytic anemia Glycolytic enzyme deficiencies 1. Hexokinase 2.glucose-phosphate isomerase 3.aldolase 4.triose-phosphate isomerase 5. phosphate-glycerate kinase enolase pyruvate kinase
What event in embryology can cause albinism lack of migration of neural crest cells to skin (form melanocytes)
What genetic error can cause Severe Combined Immnuodeficiency (SCID)? Adenosine deaminase deficiency
what group of people can be seen with pyruvate dehydrognease deficiency alcoholics due to B1 defiecincy
What is a complication of cystinuria cystine kidney stones
What is a dominant negitive mutation? a mutation that exerts a dominant effect because the body cannot produce enough of the normal gene product with only one allele functioning normally
What is a good pnuemonic for the four glycogen storage diseases Very-Von Gierke's PoorPompes Carbohydrate-Cori's Metabolism-McArdles
What is commonly associated with xeroderma pigementosa? dry skin, melanoma and other cancers
What is crucail to the diagnosis of an Autosomal dominant disease? Family history
What is genetic anticipation? the severity of the diseas worsens or age of onset of disease is earlier in succeeding generations
What is inheritance of G6PD dfiency and what population is effected more often X-linked recessive; blacks
What is NAD/NADP made form Niacin, 'Serotonin, melatonin
What is osteogenesis imperfecta often confused with child abuse
What is the biochemical defect in Metachromatic leukodystrophy and what is the inheritance pattern deficiency of arylsulfatase A; Autosomal recessive
What is the biochemical defect in Nieman-Pick disease and how is it inherited deficiency of Betaglucocerebrosidase; autosomal recessive
What is the biochemical effect of G6PD defiency decrease in NADPH which is necessary to reduce glutathione which in turn detoxifies free radicals and peroxides
What is the cause of Cystinuria and what are the signs/symptoms inheritied defect o the tubular amino acid transporter for Cystine, ornithine, Lysine and Arginine in kidneys excess cystine in urine
What is the cause of Fabry's disease and what is the common clinical problem Alpha-galactosidase A deficiency; gives accumulation of ceramide trihexoside causing renal failure
What is the cause of galactosemia? Absence of galactose-1phosphate uridyltransferase; accumualtion of toxic substances (galactitol)
What is the characteristic defect in Hurler's syndrome Alpha-L-iduronidase defiency leads to corneal clouding and mental retardation
What is the characteristic findings in Neurofibromatosis Multiple café-au-lait spots, neurofibromas increased tumor susceptibilty
What is the clinical picture of a patient with cystic fibrosis pulmonary infections, exocrine pancreatic insufficiency, infertility in men
What is the clinical picture of Duchenne's muscular dystrophy muscular weakness and degeneration
What is the defect in Maple Syrup Urine disease decreased Alpha-ketoacid dehydrogenase. blocks degradation of branched amino acids Ile. Val. Leu
What is the epidemiology of lactose intolerance Age-dependnet and/or hereditary (blacks and Asians)
What is the etiology of Homocystinuria defect in cystathionine synthase. Two forms: 1. deficiency 2. decreased affinity of synthase for pyridoxal phosphate (cofactor)
What is the finding of Hunter's syndrome on H & P mild mental retardation but no corneal clouding
What is the formula for Hardy-Weinberg equilibrium? p^2 +2pq + q^2 =1 and p +q=1
What is the genetic mech. Of Cystic fibrosis and it's inheritance AR; multiple loss-of-function mutations in a chloride channel
What is the genetic mechanism of Duchenne's muscular dystrophy X-linked recessive;caused by multiple loss-of-funtion mutations in a muscle protein
What is the genetic mechanism of Fragile X MR X-linked; progressive expansion of unstable DNA causes failure to express gene-encoding RNA-binding protein
what is the genetic mechanism of Neurofibromatosis AD, multiple loss-of function mutations in a signaling molecule
What is the genetic problem in Down's Syndrome trisomy 21 chromosomal imbalance
What is the inheritance of Krabbe's disease Autosomal recessive
what is the inheritance pattern and carrier frequency in Tay-Sach's Autosomal recessive; 1:30 in Jews of European descent and 1:300 in the general populaition
What is the inheritance pattern of Ehlers-Danlos syndrome 10 types of this syndrome Type IV-Auto Dominant Type VI-Auto Recessive Type IXX-linked recessive
What is the inheritance pattern of Gaucher's disease Autosomal recessive
What is the inheritance pattern of xeroderma pigmentosa autosomal recessive
What is the inheritiance pattern of Fabry's disease X-linked recessive
What is the lab symptoms of G6PD defiency Heinz Bodies: altered hemoglobin precipitate in RBC
What is the most distinguishing finding in TaySach's disease on Physical exam cherry red Macula; these patients die by 3
What is the pathogneumonic cell type founde in Gaucher's disease Gaucher's cells with the characteristic 'crinkled paper' appearance of enlarged cytoplasm
What is the pattern of inheritance of Leber's hereditary optic neuropathy? mitochondrial inheritance
What is the phenotype in Osteogenesis imperfecta increased susceptibility to fractures;connective tissue fragility
What is the phenotype of Down's syndrome Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart problems
What is the phenotype of Fragile X mental retardation, characteristic facial features, large testes
What is the predominant problem in Ehlers-Danlos syndrome Faulty collagen synthesis
What is the prevalance of cystic fibrosis 1:2000 whites; very rare among Asians
What is the prevalandce of Neurofibromatosis 1:3000 with 50% being new mutations
What is the prevalence of Down's syndrome and what are the risk factors 1:800; increased risk with advanced maternal age
What is the prevalence of Duchenne's musc. dys. 1:300; 33% new mutations
What is the prevalence of Fragile X- associated mental retardation 1:1500 males: can be in feamales is a multi-step process
What is the prevalence of osteogenesis imperfecta 1:10000,
What is the prevalence of Phenylketonuria 1:10000
What is the priamry defect in Fructose intolerance and how is it inherited? defiency of aldolase B, autosomal recessive
What is the primary defect in Alkaptonuria congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine
What is the primary defect(s) found in Phenylketoneuria either 1.decreased phenylalanie hydroxylase or 2. decreased tetrahydrobiopterin cofactor
What is the rate-limiting enzyme in the HexoseMonophosphate shunt? Glucose-6-phosphate dehydrogenase
What is the result of pyruvate dehydrognease deficiency backup of substrate (pyruvate and alanine) resulting in lactic acidosis
What is the specific defect in Xeroderma pigmentosa defective excision repair such as uvr ABC exonuclease; have inability to repair thymidine dimer formed by UV light
What is the treament of Cystinuria and what is a possible consequence of not treating Acetazolide to alkinlize the urine cystine kidney stones due to excess cysteine
What is the treatment of fructose intolerance? decrease intake of both fructose and sucrose (glucose + fructose)
What is the treatment of Homocystinuria 1. For a defiency in cystathionine synthase tx by decrease Met and increase Cys in diet 2. for decreased affinity of synthase Tx by decrease vitamin B6 in diet
What is the Tx of galactosemia? Exclude galactose and lactose (galactose +glucose) form diet
what offspring of females affected with a mitochondrial inherited disease will be effected? all offspring can be effected
what percent of offspring from two autosomal recessive carrier parents will be effected? 0.25
what percent of sons of a heterazygous mother carrying an x-linked disease will be effected? 0.5
What period of life do autosomal dominant defects present in? often present clinically after puberty
What three phenyl ketones build up in the urine of PKU patients phenylacetate, phenyllactate, phenylpyruvate
What to thyroxine and Dopa have in common both derived form tyrosine
What type of genetic error is usually more severe autosomal recessive or dominant? AR disorders are often more severe
What type of inheritance is transmitted only through mothers? mitochondrial
When do patients usually present with autosomal recessive disorders? present in childhood
Why are RBC so susceptible to Glycolytic enzyme def. RBC's metabolize glucose anaerobically (no mitochondria) and depends on glycolysis
Why do people with fructose intolerance become hypoglycemic? deficent aldolase B causes the accumulation of Fructose 1phosphate which acts as a phosphate sink and traps the phosphate. Decreased phosphate availability inhibits glycogenolysis and gluconeogenesis
X-linked recessive disease is aften more severe in males
1,3-BPG 2,3-BPG via bisphosphoglycerate mutase
Acyl coenzyme A, lipoamide
aldehydes TPP
Arachidonate prostaglandins, thromboxanes, -leukotrienes
Associate the following signal molecule precursors. j
At body pH, what AA are negatively charged? Arg and Lys His is neutral at pH 7.4
At body pH, what AA are positvely charged? Asp and Glu
ATP cAMP via adenylate cyclase
By what rxn order kinetics does alcohol dehydrogenase operate? zero order kinetics
CH(3) groups SAM
Choline CDP-choline
Choline ACh via choline acetyltransferase
CO(2) biotin
Contrast glucagon and insulin. glucagon phosphorylates stuff, -turns glycogen synthase off and phosphorylase on
Contrast hexokinase and glucokinase. hexokinase throughout the body, -GK in liver and has lower affinity but higher capacity for glucose
Contrast hexokinase and glucokinase. only HK is feedback inhibited by G6P
Does insulin affect glucose uptake of brain, RBC's and liver? No
Does insulin inhibit glucagon release by alpha cells of pancreas? yes
electrons NADH, NADPH, FADH(2)
Fructose-6-phosphate fructose-1,6-bis-P via PFK (rate limiting step of glycolysis)
Glucose UDP-Glucose
glutamate GABA via glutamate decarboxylase (requires vit. B6)
GTP cGMP via guanylate cyclase
How are ketone bodies excreted? in urine
How are ketone bodies formed? FA and AA converted to acetoacetate and bhydroxybutyrate
How do the statin drugs work? they inhibit HMG-CoA reductase
How does disulfiram work? inhibits acetylaldehyde dehydrogenase
How does FA enter the cytosol? via citrate shuttle
How does FA enter the mitochondria? via the carnitine shuttle
How does lead affect heme synthesis? inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
How does the brain metabolize ketone bodies? to 2 molecules of acetyl coA
How is bilirubin removed from the body? collected by liver, conjugated with glucuronate excreted in bile
How is ethanol metabolized? ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+ acetalaldehyde ox to acetate by acetylaldehyde and NAD+
How is FA entering the mitochondria inhibited? by cytoplasmic malonyl-CoA
How is glutamate converted to a-ketogluturate By the loss of amonium and reduction of NADP
How is glutamine converted to glutamate? By the loss of amonium
How is heme catabolized? scavenged from RBC's and Fe +2 is reused
How is LDL uptake undergone? by target cells through receptor-mediated endocytosis
How is most plasma cholesterol esterfied? LCAT(lecethin-cholesterol acyltransferase)
How is NAD+ generally used metabolically? catabolic processes
How is NADPH generally used metabolically? anabolic processes (steroid and FA synthesis), repiratory burst, P-450
How is TCA regulated? by need for ATP and supply of NAD+
How many ATP's per acetyl CoA? 12
How many ATP equivalants are needed to generate glucose from pyruvate? 6
How many enzyme activities does pyruvate dehydrognase possess 3
How many moles of ATP are generated aerobically through G3P shuttle? 36 ATP
How many moles of ATP are generated aerobically through malate shuttle? 38 ATP
How many moles of ATP are generated anaerobically? 2 ATP
In what tissue does heme synthesis occur (2)? liver and bone marrow
Insulin mneumonic insulin moves glucose into cells
Is Serum C peptide present with exogenous insulin intake? No
Kwashikor results from a protein deficient MEAL (mneumonic) Malabsorption, Edema, Anemia, Liver (fatty)
Mnemonic for gluconeogenesis irreversible enzymes? Pathway Produces Fresh Glucose
Mnemonic for SAM. SAM the methyl donor man
Name 6 common products of pyruvate metabolism? glucose, lactate, Acetyl CoA +CO2, OAA, Alanine
Name the activated carriers with associated moleclues (one carbon units). tetrahydrofolates
phosphoryl ATP
T/F. Uncouplers stop ATP production? FALSE
Underproduction of heme causes what anemia? microcytic hypochromic anemia
What AA are required during periods of growth? Arg and His
What are clincial syndromes of this disorder? xanthomas, atherosclerosis homozygotes MI by age 30
What are major pathways occur in the liver (8)? most including gluconeogenesis, etc.
What are the activators of glycgenolysis? cAMP, and calcium ion
What are the cofactors of pyruvate dehydrogenase (5)? pyrophosphate, lipoic acid, CoA, FAD and NAD
What are the components of a cholymicron remnant? TG, FFA and apo E
What are the components of a cholymicron? TG, apo C-II, apo E, B-48, apo A
What are the components of IDL? less TG, CE, B-100 and E
What are the components of LDL? CE and B-100
What are the components of VLDL? TG, Cholesterol ester, B-100, CII and E
What are the degradation product steps (3)? heme to biliverdin to bilirubin
What are the effector hormones of cholesterol synthesis? insulin increases, glucagon decreases
What are the effector hormones of glyc and pyr ox? decreased glucagon and increased insulin
What are the effector hormones of glycogenolysis? insulin decreases, epi and glucagon increases
What are the effector hormones of lipogenesis (2)? insulin increases, glucagon decreases
What are the electron transport chain inhibitors? rotenone, antimycin A, CN-, CO
What are the essential glucogenic/ketogenic AA? Ile, Phe, Try
What are the essential gluconeogenic AA? Met, Thr, Val, Arg, His
What are the essential ketogenic AA? Leu and Lys
What are the irreversible enzymes of gluconeogenesis (4)? -pyruvate carboxylase, -PEP carboxykinase,-fructose-1,6bisphosphotase, -glu-6phosphotase
What are the irreversible enzymes of glycolysis (4)? -glucokinase/hexokinase,PFK,-pyruvate kinase,pyruvate dehdrogenase
What are the main substrates used by adipose tissue (2)? -glucose, -lipoprotein triacylglycerol
What are the main substrates used by brain? -glucose, -aa and ketone bodies when starved, polyunsat FA in neonates
What are the main substrates used by heart? FFA, -some glucose, -lactate, -ketone bodies, VLDL and cholymicrom triacylglycerol
What are the main substrates used by liver? FFA, -glucose, -lactate, glycerol, fructose, -AA
What are the major activators of gluconeogenesis? Acetyl CoA for pyruvate carboxylase and cAMP for PEP carboxykinase and F-1,6bis-P
What are the major activators of glycolysis and pyruvate oxidation? AMP, fructose2,6-bis-P, fructose 1,6-bis-P in muscle, CoA, NAD, ADP and pyruvate
What are the major metabolic pathways of the adipose tissue (2)? - esterfication of FA's lipolysis
What are the major metabolic pathways of the brain (2)? -glycolysis,-aa metabolism
What are the major metabolic pathways of the heart? Aerobic pathways like B oxidation and TCA cycle
What are the major products of the adipose tissue (2)? -FFA, -glycerol
What are the major products of the brain? lactate
What are the major products of the liver (10)? glucose,-VLDL,-HDL,-ketone bodies,-urea,-uric acid, -bile acids, -plasma proteins
What are the major regulatory enzymes of gluconeogenesis (3)? pyruvate carboxylase, PEP carboxykinase and F-1,6bis-P
What are the major regulatory enzymes of glycolysis and pyruvate oxidation? PFK and pyruvate dehydrogenase
What are the major regulatory enzymes of cholesterol synthesis? HMG-CoA reductase
What are the products of the liver in the fasting state? glucose and ketone bodies
What are the products of the liver in the fed state? glycogen and fats/VLDL
What are the products of the TCA cycle? 3NADH, 1FADH2, 2CO2, 1GTP per Acetyl CoA
What are the some causes of hyperbilirubinemia (4)? massive hemolysis, -block in catabolism, -diplaced from binding sites on albumin, decreased excretion
What are the sources of hyperbilirubinemia (2)? conjugated (direct/ glucuronidated) and unconjugated(indirect/ insoluble)
What are the specialist enzymes of muscle (2)? -lipoprotein lipase, and well developed resp chain
What are the specialist enzymes of the adipose tissue (2)? -lipoprotein lipase,-hormone sensitive lipase
What are the specialist enzymes of the heart (2)? -lipoprotein lipase, respiratory chain welldeveloped
What are the specialist enzymes of the liver? -glucokinase,-glu-6phosphotase,-glycerol kinase, -PEP carboxykinase, fructokinase,-arginase,-HMG coA synthase and lyase, -7ahydroxylase
What are the three sites in the electron transport chain for active proton transfer? NADH dehydrogenase, Cyt b/ c1, and cytochrome oxidase aa3
What can occur as an excess of cholymicrons (3)? pancreatitis, lipemia retinalis and eruptive xanthomas
What can occur as an excess of VLDL? pancreatitis
What catalyzes cholymicron to cholymicron remnant? lipoprotein lipase
What catalyzes IDL to LDL? hepatic TG lipase
What catalyzes VLDL to IDL? lipoprotein lipase
What causes a hangover? acetylaldehyde accumulates
What color is bilirubin and what is the condition of excess? yellow, jaundice
What complex is pyruvate dehydrogenase similar to? a-ketogluturate dehydrogenase complex
What do LT c4, D4 and E4 do (4)? bronchconstriction, vasoconstriction, contract smooth muscle, increase vascular permeability
What does breath smell like during ketoacidosis? fruity(acetone)
What does excess LDL cause (3)? atherosclerosis, xanthomas, and arcus corneae
What does oligomycin do to ETC? ATPase inhibitor that increases proton gradient but not ATP production
What does PGI stand for? platelet gathering inhibitor
What does the COX pathway yield? thromboxanes, prostaglandins and prostacyclin
What does the lipooxygenase pathway yield? leukotrienes
What does this stand for? Ornithine, citrulline, carbamoyl-p, aspartate, arginosuccinate, fumurate, arginine, urea
What enzyme catalyzes the rate limiting step of cholesterol syn.? HMG-CoA reductase
What induces the PPP? insulin
What is a major component of atherosclerotic plaque? modified LDL
What is an uncoupling agent to the ETC? 2,4 DNP (dynamite)
What is cofactor required for methionine (SAM) regeneration? vitamin B12
What is does PGI 2 inhibit (2)? platelet aggregation and vasodilation
What is familial hypercholesteremia? AD genetic defect in LDL receptor
What is Kwashikor? protein malnutrition
What is LT B4? neutrophil chemotactic agent
What is Marasmus? Protein-calorie malnutrition resulting in tissue wasting
What is the activator of lipogenesis? Citrate
What is the activator of PPP? NADP+
What is the clinical picture of Kwashikor? small child with swollen belly
What is the committed step of heme synthesis? glycine+succ CoA to deltaaminolevulinate
What is the composition of ATP? Base(adenine), ribose, 3 phosphoryls
What is the consequence of accumulated intermediates of heme synthesis? porphyrias
What is the easy way to remember the cofactors of PDH complex? First 4 B vitamins + lipoic acid
What is the effector hormone for glycogenesis? Glucagon
What is the energy content of the 2 phosphoanhydride bonds? 7 kcal/mol each
What is the functiion of HDL (2)? transfers cholesterol from periphery to liver acts as a repository for apoC and apoE
What is the functioin of lipoprotein lipase? FA uptake to cells from choly's and VLDL's
What is the function of aminolevulinate (ALA) synthase ? rate limiting step of heme synthesis converts succinyl CoA and glycine to ALA
What is the function of cholymicrons (2)? delivers dietary TG to peripheral tissues delivers dietary cholesterol to liver
What is the function of hormone sensitive lipase? degradation of stored TG's
What is the function of LDL? delivers hepatic cholesterol to peripheral tissues
What is the function of phospholipase A2? liberates arachidonic acid from cell membrane
What is the function of PPP (3)? -produces ribose-5-P from G6P for nucleotide synthsesis,-produces NADPH,-part of HMP shunt
What is the function of SAM? transfers methyl units to wide variety of receptors
What is the function of the Cori Cycle? transfers excess reducing equivalants from RBC's and muscle to liver to allow muscle to function anaerobically
What is the function of Tx A2 (2)? platelet aggregation and vasoconstriction
What is the function of VLDL? Delivers hepatic TG to peripheral tisssue
What is the inhibitor of lipogenesis (2)? long-chain acyl-CoA, -cAMP
What is the inhibitor of PPP? NADPH
What is the limiting reagent of ethanol metabolism? NAD+
What is the main substrate of fast twitch muscle? glucose
What is the main substrate of slow twitch muscle? ketone bodies, -FFA, triacylglycerol
What is the major function of fast twitch muscle? rapid movement
What is the major function of slow twitch muscle? sustained movement
Created by: megankirch