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Basic Biochemistry

HY - Bill's COMPILED Basic Biochemistry - One-Liners

DNA is tightly wrapped against which structures to form chromatin? Histones
Histones are made primarily of which amino acids? Lysine and Arginine (because of their + charge)
Which form of chromatin is condensed and cannot be transcribed? HeteroChromatin
Which form of chromatin is less condensed and can be read? Euchromatin
Which bases are purine? Adenine and Guanine
Which bases are pyrimidines? Cytosine, Thymine, and Uracil
Which amino acids are needed to make purines? Glycine, Aspartate, and Glutamine
Purine bases are made from which precursor? Inosine Monophosphate dehydrogenase (IMP)
Pyrimidines are made from which precursor? Orotate
Rate-limiting enzyme of Purine synthesis? Glutamine-PRPP-amidotransferase
Rate-limiting enzyme of Pyrimidine Synthesis? Carbamoyl-phosphate-synthatase II (CPS II)
Which molecule is needed for both Purine and Pyrimidine synthesis? PRPP
What disorder causes high levels of orotic acid, Failure to thrive, and Megaloblastic anemia (that you can't fix with B12 or folate?) **Knowing that the megaloblastic anemia won't correct in this is huge** Orotic aciduria
What disorders arise because of failure to salvage purines? SCIDs and Lesch-Nyhan Syndrome
What enzyme is deficient in Severe Combined Immunodeficiency Disease (SCID)? Adenosine Deaminase
What enzyme is deficient in Lesch-Nyhan Syndrome? HGPRT
Substituting a purine base for another purine base is called? Transition
Substituting a purine base for a pyrimidine base is called? Transversion
What mutation is caused by a mutation in the 3rd position of the tRNA that doesn't change the protein A.A. sequence? Silent
What mutation is caused by a change in amino acid in a protein but to one with a similar structure? Missense
What mutation is results in the insertion of an early stop codon? Nonsense
What is the cause of Duchenne's muscular dystrophy? X-linked frame shift mutation resulting in no dystrophin
What is the cause of Becker's Muscular dystrophy? X-linked mutated dystrophin gene but still present
Which prokaryotic DNA polymerase does the main work of DNA synthesis and proofreads 3' -> 5'? DNA Polymerase III
Which prokaryotic DNA polymerase degrades the RNA primer and fills in the gap with DNA? DNA Polymerase I
What process is deficient in Xeroderma Pigmentosum? Nucleotide excision repair
What process is deficient in Hereditary nonpolyposis colorectal cancer? Mismatch repair
The start codon AUG codes for which amino acid? Methionine
What are the 3 stop codons? - note these code for no amino acid unlike the start codon AUG - methionine UGA, UAA, UAG (U Go Away, U Are Away, U Are Gone)
Which RNA is the most abundant? rRNA - rampant
Which RNA is the longest? mRNA - massive
Which RNA is the smallest? tRNA - tiny
Which RNA polymerase encodes rRNA? RNA polymerase I (site of action of Rifampin)
Which RNA polymerase encodes mRNA? RNA polymerase II (site of α-amantin
Which RNA polymerase encodes tRNA? RNA polymerase III
mRNA is 1st made into heterogenous nuclear RNA (hnRNA) before it is spliced to make mRNA, which information is kept? Exon or Introns? Exons
Which disease results from alternate splicing mutations? Thalassemias
What enzyme is responsible for attaching the amino acid to tRNA? Aminoacyl - tRNA synthetase
How many high energy bonds are needed to add 1 amino acid during translation? 4 high-energy bonds (ATP->AMP ; 2 GTP->GDP)
Where is the site of synthesis of secretory proteins? Rough Endoplasmic Reticulum
Where is the site of steroid synthesis and detoxification of drugs (organelle not organ)? Smooth endoplasmic Reticulum
What are Nissl bodies are why are they important? RER in neurons and are in dendrites but not the axon
Which organelle is the site for labelling specific proteins for the lysosome? Golgi apparatus
What addition to a protein labels it for the lysosome? mannose-6-phosphate
Which disease results from deficient addition of mannose-6-phosphate onto proteins? I-cell disease (coarse face, clouded cornea, little joint movement, often fatal in childhood)
Which motor protein is used in retrograde transport along microtubules? Dynein
Which motor protein is used in anterograde transport along microtubules? Kinesin
Which disease results in poor phagocytosis, partial albinism, and peripheral neuropathy because of a microtubule polymerization defect? Chediak-Higashi Syndrome
Kartagener syndrome is the result of immotile cilia due to a defect in? Dynein
Symptoms of Kartagener syndrome? Immotile sperm, female infertility, bronchiectasis, and situs inversus ** note this sounds a lot like cystic fibrosis, however, here sperm are made but don't move, but with CF the vas deferens don't form**
Which stain is used to detect connective tissue eg. Sarcomas? Vimentin
Which stain is used to detect muscle eg. Rhabdomyosarcoma? Desmin
Which stain is used to detect epithelial cells eg. Carcinomas? Cytokeratin
Which stain is used to detect neuroglia? GFAP
Which stain is used to detect neurons? Neurofilaments
What type of collagen makes bone, skin, tendons, dentin, and the cornea? Type I (STRONG)
What type of collagen makes cartilage, vitreous body, and the nucleous pulposus? Type II (SLIPPERY) **carTWOlage**
What type of collagen makes blood vessels, uterus, fetal tissue, and granulation tissue? Type III (BLOODY)
What type of collagen makes the basement membrane? Type IV
Collagen is loaded with tons of which amino acids? Proline and Lysine
What is required to form hydroxyproline and hydroxylysine in collagen helices? Vitamin C
What collagen is mutated in Ehlers-Danlos Syndrome? mostly type III
What collagen is mutated in Osteogenesis imperfecta? Type I
What collagen mutation results in nephritis, deafness, and ocular disturbances? Type IV (Alport's syndrome)
What protein is mutated in Marfan's Syndrome? Elastin
What procedure would you use to detect the mutations in Prader-willi or Angelman syndrome? Either Microarrays or PCR or FISH
What procedure would you use to detect antibodies against the basement membrane in Goodpasture's syndrome? ELISA
What procedure would you use to identify the dystrophin gene in Becker's MD from normal dystrophin? Western blot
**Southern blot DNA ; Northern
When looking for a particular gene anomaly which procedure would you use? FISH
What is it called when a random X-chromosome inactivates to form a barr body? Who has them? lyonization and Women and Klinefelters (must have 2 Xs)
The differences in Prader-Willi and Angleman syndrome (chromosome 15) are the result of a process called? imprinting
What are the fat soluble vitamins? A, K, E, D (All Kids Enjoy Dairy)
What are the symptoms of Vitamin A deficiency? Night blindness and dry skin
What are the symptoms of too much Vitamin A? Teratogen, athralgias, fatigue, headaches, alopecia
Wernicke-Korsakoff syndrome is caused by deficiency of what vitamin? (usually cause by chronic alchohol) B1 (Thiamine)
What is the difference between Dry Beri Beri and Wet Beri Beri? Both are caused by Thiamine Deficiency Dry
Symptoms: Cheilosis and corneal vascularization. What is the vitamin deficiency? B2 (riboflavin)
Symptoms: Dementia, Dermatitis, Diarrhea, and Death. What is the vitamin deficiency? B3 (Niacin) - Pellagra
Symptoms: Dermatitis, Enteritis, Alopecia, Adrenal Insufficiency. What is the vitamin deficiency? B5 (pantothenate)
Symptoms: Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia. What is the vitamin deficiency? B6 (pyridoxine)
Symptoms: megaloblastic anemia, hypersegmented PMNs, neurologic symptoms. What is the vitamin deficiency? B12 (cobalamin)
Symptoms: megaloblastic anemia, hypersegmented PMNs. What is the vitamin deficiency? Folic Acid
What is the role of S-adenosyl-Methionine (SAM)? to donate methyl groups (like to make epinephrine)
Symptoms: Dermatitis, alopecia, enteritis. Very rare, and caused by antibiotics and too many raw eggs Biotin deficiency
Symptoms: Swollen guns, bruising, anemia, poor wound healing. Vitamin deficiency? Vitamin C (Scurvy)
Symptoms: hemolytic anemia, muscle weakness, neurodysfunction. Vitamin deficiency? Vitamin E
Symptoms: increased PT and PTT but normal bleeding time. Vitamine deficiency? Vitamin K
Vitamin K is needed to make which clotting factors? Protein S and C, 10, 9, 7, 2 (diSCo started in 1972)
Symptoms: delayed wound healing, hypogonadism, loss of adult hair (facial, axillary, pubic), dysgeusia, and anosmia. Deficiency? Zinc
RLE of Glycolysis Phosphofructokinase - I
RLE of Gluconeogenesis Fructose 1,6-bisphosphatase
RLE of TCA cycle Isocitrate dehydrogenase
RLE of glycogen sythesis Glycogen Synthase
RLE of glycogenolysis Glycogen Phosporylase
RLE of HMP shunt (aka the Hexose monophosphate shunt or the pentose phosphate pathway) Glucose-6-phosphate dehydrogenase
RLE of pyrimidine synthesis CPS II
RLE of Purine sythesis Glutamine-PRPP-amidotransferase
RLE of Urea cycle CPS I
RLE of Fatty acid sythesis Acetyl-CoA carboxylase
RLE of fatty acid oxidation Carnitine acyltransferase I
RLE of Ketogenesis HMG-CoA synthase
RLE of Cholesterol sythesis HMG-CoA reductase
What processes are NADPH used in? Anabolic processes, Respiratory burst, P-450, and Glutathion reductase
The following molecules will have an increase or decrease in the rate of glycolysis? 1) ATP 2) AMP 3) Citrate 4) Fructose-2,6-Bisphosphate 1) Decreases because you have lots of energy 2) Increases because you have no energy 3) Decreases because the TCA cycle needs to catch up 4) Increases because you need to further drive glycolysis
What cofactors are required for pyruvate dehydrogenase and α-ketoglutarate dehydrogenase? Thiamine, FAD (riboflavin), NAD (Niacin), CoA (pantothenate) and Lipoic acid
Increased levels of which molecules with increase the rate of pyruvate dehydrogenase? Increased levels of NAD+/NADH, ADP, and Ca+ **high levels of the above suggests you need energy**
What other molecules can pyruvate be made into? Glucose, Lactate, Acetyl-CoA, Oxaloacetate, and Alanine
What is the purpose of the Cori Cycle? Allows lactate to be made into glucose!
What is the purpose of the HMP shunt? To make NADPH for glutathione protection and ribose
What disease is caused by failure to make NADPH and protect against free radical damage? Glucose-6-phosphate dehydrogenase deficiency
What enzyme is deficient in Fuctose Intolerance? Aldolase B
What enzyme is deficient in Essential Fructosuria? Fructokinase
What is the difference between the two above disorders? Essential Frucosuria is benign (Fructose intolerance has hypoglycemia, jaundice, cirrhosis and vomiting)
What enzyme is deficient in Classic Galactosemia? galactose-1-phosphate uridyltransferase
What enzyme is deficient in Galactokinase deficiency? galactokinase
Symptoms of classic galactosemia? failure to thrive, jaundice, cataracts, hepatomegaly, MR
Symptoms of galactokinase deficiency? mild condition, galactose in urine, cataracts, no social smile
What is the most common Urea cycle disorder? Ornithine transcarbamoylase deficiency (OTC)
Symptoms of OTC deficiency? High Orotic acid, decreased BUN, hyperammonemia
What can be made from Phenylalanine? Tyrosine, DOPA, Dopamine, Thyroxine, Melanin, NE, Epi
What can be made from Tryptophan? Serotonin, Melatonin, Niacin
What can be made from Histidine? Histamine
What can be made from Glycine? Porphyrin, Heme
What can be made from Arginine? Creatine, Urea, and Nitric Oxide
What can be made from Glutamate? GABA, and glutathione
What is the cause of Phenylketonuria? Lack of Phenylalanine Hydroxylase or BH4
What is the cause of alkaptonuria (ochronosis)? lack of homogentisic acid oxidase
What is the cause of albinism? Lack of tyrosinase or tyrosine transporters
What causes homocystinuria? Lack of Cystathione synthase low affinity of above for pyridoxal phosphate Homocysteine methyltransferase deficiency
What are the symptoms of homocystinuria? Mental retardation, osteoporosis, tall stature, kyphosis lens subluxation, atherosclerosis
What is the cause of cystinuria? Defect in renal tubular amino acid transporter
What are the symptoms of cystinuria? Cystine Kidney stones (Rx. Acetazolamide to increase pH)
What is the cause of maple syrup urine disease? Can't degraded branched chain A.As (Ile, Leu, Val)
Which disease results in loss of tryptophan in the urine and leads to pellagra? Hartnup disease
What disease is caused by lack of α-galactosidase A? Fabry's Disease
What disease is caused by lack of β-glucocerebrosidase? Gaucher's Disease
What disease is caused by lack of Sphingomyelinase? Niemann-Pick Disease
What disease is caused by lack of Hexosaminidase A? Tay-Sachs
What disease is caused by lack of Galactocerebrosidase? Krabbe's Disease
What disease is caused by lack of arylsulfatase A? Metachromatic leukodystophy
What disease is caused by lack of α-L-iduronidase? Hurler's Syndrome
What disease is caused by lack of Iduronate sulfatase? Hunter's Syndrome
Which Lysosomal storage diseases are passed in an X-Linked recessive fashion? (rest are recessive) Hunter's and Fabry's Disease
Which Lysosomal storage disease has a cherry red spot? Niemann-Pick and Tay-Sachs Disease
Which LSD has Crumpled tissue paper cytoplasm? Gaucher's Disease
Which LSD has Onion skin lysosomes? Tay-Sachs
Which LSD has Foam cells? Niemann-Pick Disease
What is the difference between Hunter's and Hurler's Hurler's has corneal clouding, Hunter's does not
Which disease is cause by lack of Glucose-6-phosphatase? Von Gierkes
Which disease is caused by lack of α-1,4-glucosidase (acid maltase)? Pompe's Disease
Which disease is caused by lack of α-1,6-glucosidase (debranching enzyme)? Cori's Disease
Which disease is caused by lack of glycogen phosphorylase? McArdle's Disease
Which diseases causes severe fasting hypoglycemia, glycogen buildup in liver, increase blood lactate, and hepatomegaly? Von Gierkes
Which disease causes Cardiomegaly and early death? Pompe's Disease (Pompe's trashes the pump)
Which disease causes fasting hypoglycemia, some glycogen buildup, and increased blood lactate, and hepatomegaly? Cori's Disease (hard to differentiate between Von Gierkes)
Which disease causes increased glycogen in muscle, painful muscle cramps, and myoglobinuria with exercise (red urine)? McArdle's Disease
Rate limiting enzyme of Fatty acid Synthesis? Acetyl-CoA carboxylase
Rate limiting enzyme of Fatty acid Degredation? Carnitine acyltransferase I
Calories for 1g of protein, 1g alcohol, and 1g of fat? 1 g of protein is worth 4 kcal. 1 g of alcohol is 7 kcal. 1 g of fate is worth 9 kcal.
What are the essential fatty acids? Linoleic and Linolenic Acid
What apolipoprotein binds to the LDL receptor? B-100
What apolipoprotein mediates chylomicron secretion? B-48
What apolipoprotein mediates extra remnant uptake? Apo-E
What is the cause of abeta-lipoproteinemia? lack of apoB-100 and apoB-48
What are the symptoms of abeta-lipoproteinemia? failure to thrive, steatorrhea, spiky-RBCs (acanthocytosis) ataxia, and night blindness
What genetics disease follow autosomal dominant transmission? Achondroplasia, ADPKD, Familial adenomatous polyposis, Hypercholesterolemia, Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu), Hereditary Spherocytosis, Huntington's, Marfan's, MEN, NF types 1/2, Tuberous Sclerosis, and von Hippel-Lindau Disease
What genetic diseases follow X-linked transmission? Bruton's agammaglobinemia, Wiskott-Aldrich syndrome, Fabry's disease, G6PD deficiency, Ocular Albinism, Lesch-Nyhan Syndrome, Duchenne's and Becker's MD, Hunter's Syndrome, Hemophilia A and B, and Fragile X syndrome.
Which diseases are caused by trinucleotide repeats? Huntington's, myotonic dystophy, Fragile X, and Friedreich's ataxia
Which trisomy has mental retardation, flat face, epicanthal folds, a simian crease, doudenal atresia, and and ASD? Down's Syndrome (21)
Which trisomy has rocker-bottom feet, micrognathia, low set ears, clenched hands, and congenital heart disease? Edward's Syndrome (18)
Which trisomy has rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, and polydactyly? Patau Syndrome (13)
Which disorder is characterized by elfin faces, mental retardation, hypercalcemia, extreme friendliness to strangers? William's Syndrome (think of Will ferrel in ELF)
Cri-du-chat is caused by microdeletion of what chromosome? Chromosome 5p
What is the cause of DiGeorge Syndrome (Velocardiofacial syndrome)? 22q11 deletion
Created by: HY90X