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Path - Chapter 5


Loss of key structural protiens such as those seen in osteogenesis imperfecta are typically inhereted how? Autosomal dominant (dominant negative effect seen here)
Gain of function mutations which can result in abnormal proteins that are toxic to tissues such as seen in Huntingtons is inherited how? Autosomal Dominant
This is the largest category of mendelian disorders (autosomal dom, autosomal recessive, x-linked recessive)? Autosomal recessive
Complete penetrance is common in Autosomal Dominant genes (T/F)? False; seen more in autosomal recessive
A new mutation which is autosomal recessive will result in an asymptomatic or symptomatic child? Asymptomatic
Von willebrand disease and spherocytosis is passed down in which pattern? Autosomal dominant
What mendelian fashion is polycystic kidney disease passed down? Autosomal Dominant
How is achondroplasia inherited? Autosomal dominant
How are myotonic dystrophy and tuberous sclerosis inherited? Autosmal dominant
lysosomal storage disease and wilsons are inherited how? Autosomal recessive
hemochromatosis and congenital adrenal hyperplasia are inherited how? Autosomal recessive
friedreich ataxia is inherited how? Autosomal recessive
G6PD is typically inherited how? X-linked recessive
Females heterozygotes of G6PD are predisposed to what under certain drugs such as malaria? anemia
Vitamin D rickets is an example of what kind of inheritance? X-linked dominant
Duchenne muscular dystrophy is inherited how? X-linked recessive
Chronic granulomatous disease is inherited how? X-linked recessive
Agammaglobulinemia and Wiskott-Aldrich are inherited how? X-linked recessive
Lesch-Nyhan and fragile X are inherited how? X-linked recessive
What are the 4 mechanisms for single gene mendelian disorders? enzyme defects and consequences; defects in membrane receptors and transport systmes; alteration in structure and function and quantity of non-enzyme proteins; mutations involving unusual reactions to drugs
This is an autosomal dominant condition marked by disorders of connective tissues, manifested principally by changes in the skeleton, eyes, and cardiovascular system; an extracellular glycoprotein prevents proper deposition of tropoelastin. Marfan Syndrome (Fibrillin-1_FBN1)
In marfan syndrome, what cytokine is upregulated due to loss of normal microfibril sequesteration. This can have deleterious effects on vascular smooth muscle development? TGF-B (may lead to aortic dissection)
This patient is unusually tall with long fingers and toes; double jointed. His face has prominent supraorbital ridges and has a history of scoliosis. His chest has mild pectum excavatum, and eye exam reveals ectopia lentis. What is this? Marfan Syndrome
What is the most life-threatening feature of patients with marfan syndrome? Cardiovascular lesions (mitral valve prolapse and dilation of aorta)
This group of disorders result from some defect in the synthesis or structure of fibrillar collagen? Ehler-Danos (both autosomal dominant and Autosomal recessive)
Contortionist typically have hyperextensibel skin and their joints are hypermobile as well as vulnerable to trauma, what conditions do they normally have? Ehlers-Danos
Which Ehlers Danos display Autosomal Recessive inheretibility and why? Kyphoscoliosis type 6 (lysyl hydroxylase deficiency) and Dermatosporaxsis type 7b (due to procollagen N-peptidase)
This ehlers-danos syndrome results due to improper cross-linking of the collagen fibers? Kyphoscoliosis type 6(lysyl hyrdoxylase)
This type of Ehlers Danos results in abnormalities in type 3 collagen (a structural protein) and may result in arterial and uterine rupture Type 3 vascular
Which two ehlers-danos result from poor conversion of procollagen to collagen? Both type 7 (arthrochalasia and dermatosporaxis)
This Ehlers Danos type results from Collagen 5 gene defect and results in easy bruising, skin and joint hypermobility, and bruising
This Autosomal Dominant disease is a result of a defect in the LDL receptor, which is involved in transport and metabolism of cholesterol? Familial Hypercholesterolemia
T/F homozygotes of familial hypercholesterolemia are more severly effected than heterozygotes? TRUE (more LDL receptors are affected)
What is the immediate and major precursor of LDL? IDL
What are two ways of removal of LDL from the plasma? LDL receptor and Scavenger receptor (macrophages)
What three processes are affected by intracellular cholesterol? Cholesterol inhibits HMG Coa reductase (rate-limiting step in cholesterol synthesis); Activates acyl-coenzyme A:cholesterol acyltransferase; suppresses synthesis of LDL receptors
Breifly describe the 5 classes of mutations affecting Familial Hypercholesterolemia? Synthethsis (uncommon); transport (fairly common- cant make it to the golgi); binding (@ cell surface but can't bind LDL); clustering (bind normally but can't localize in coated pits); recycling (trapped in endosome, cant get back to the surface)
What is the basic pathogenesis of lysosomal storage diseases? lysosomal enzyme defects; cant break down certain molecules; lysosomes get enlarged and interfere with cellular functions
What are three strategies of lysosomal storage diseases? enzyme replacement; substrate reduction; molecular chaperone therapy (as in Gaucher_ try and help the unfolded protein)
What is the locational difference between defects in gangliosidases and mucopolysacharridases? Gangliosidases are only in the CNS while the other is found everywhere
A mutation of the alpha subunit locus on chromosome 15 results in a sever deficiency of hexoaminidase A in this disease? Tay-Sachs (build up of GM2)
Involvement of which parts of the body dominate the clinical picture of Tay Sachs Disease? Neurons in central and autonomic nervous systems and the retina
A patient diplays cytoplasmic inclusions which look like onion-skin layers within neuronal lysosomes, what is a likely diagnosis? Tay Sachs Disease
What is a characteristic optical finding in tay sach disease and some other nueronal lysosomal storgae diseases? Cherry red spot in the macula
Describe the clinical course of Tay Sachs? manifests at age 6 months, deterioration and vegetattion @ age 1-2yrs, and then death @ 2-3 yrs
An inherited defieciency of sphingomyelinase is typicall of these two diseases? Niemann Pick Disease type A and B
Which Niemann Pick disease has a worse prognosis (A or B) Type A (early death within the first 3 years)
What is the pathophysiology Niemann Pick type A? build up of sphyngomyelin in the mononuclear phagocyte lysosomes causes foaminess and enlargement, cells are widely distributed but spleen: enlarged, brain: gyri are shrunken and sulci are widened, leading to cell death and loss of brain substance
The most frequent form of this lysosomal storage disease presents at childhood and is marked by ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, and psychomotor regression; it is caused by a primary defect in lipid transport NPC (nieman pick disease C)
Deficiencies in glucocerebrosidase encompass this group of autosomal recessive disorders? Gaucher Disease (most common LSD)
These cells result from a build up of glucocerebrosides and display a fibrillary type of cytoplasm likened to crumpled tissue paper? Gaucher cells (distended phagocytic cells)
What is the most common form of Gauchers? Type 1 (chronic non-neuronopathic) limited to mononuclear phagocytes throughout the body but not the brain
T/F Presentation of Gauchers first starts in adults and are related to splenomegaly and bone involvement TRUE; type is compatible with long -life
All Mucopolysaccharidoses are inherited as Autosomal recessive except for one, which one? Hunters Syndrome (X-linked recessive)
This lysosomal storage disease is a progressive disease characterized by coarse facial features, clouding of the cornea, joint stiffness, and mental retardation? Mucopolysaccharidoses
Which cells of the body display accumulated mucchopolysaccharides in MPS? mononuclear phagocytes, endothelial cells, intimal smooth muscle cells, fibroblasts
Acid-schiff positive material accumulates in the lysosome producing an apparent clearing of the cytoplasm leading to formation of balloon cells? Mucopolysaccharidoses
Lamellated zebra bodies are seen in replaced lysosomes within neurons of these two disease? Nieman Pick and Mucopolysaccharidoses
What are the COMMON threads that run through all of the MPS? hepatosplenomegaly, skeletal deformities, valvular lesions, subendothelial arterial deposits (coronary arteries), lesions in the brain
What are the important causes of death in MPS myocardial infarction and cardiac decompensation
How do hurler (MPS1) syndrome and hunter syndrome (MPS2) differ? Hunters has no corneal clouding, is X-linked, and is milder clinically
What are the three major subgroups of glycogen storage diseases? hepatic forms (Von Gierkse glucose-6-phosphatase, deficient degradation of glycogen); Myopathic (McArdles muscle phsophorylase_ muscle cramps and elevated lactate levels post-workout); Acid Maltase and lack of branching enzyme (POMPE_cardiomegaly)
A lack of homogentisic oxidase characterizes this disease, where there is a build up of homogentisic acid which is excreted and imparts a black color to the urine? Alkaptonuria
Ochronosis is found in Alkaptonuria, what is it? dark pigmentation caused by binding of homogentisic acid to collagen of connective tissues, tendons, and cartilage
What is the most serious consequence of ochronosis in alkaptonuria? Deposits within the articular cartilage of joints leading to loss of resiliency and becoming brittle and fibrillated
Deficiency with Glucose 6 phosphatase is characteristic of this disease? Von Gierke Disease
Deficiency of muscle phosphorylase is found in this disease? McArdle Syndrome
A deficiency in lysosomal acid maltase leads to this disease? Pompe Disease
In these patients with a glycogenoses, there is hypoglycemia, hyperlipidemia, bleeding defieciency, and hepatomegaly and renomegaly? Von Gierkes
Patients with this disease have painful cramps associated with strenous exercise, elevated lactate and creatine kinase, and myoglobinuria in 50% of cases? McArdle Syndrome
Patients with this glycogenosis present with massive cardiomegaly, muscle hypotonia, and cardiorespiratory failure? Pompes Disease
What are the two usual causes for aneuploidy? non-disjunction and anaphase lag
What is the result of nondisjuntion? one trisomic cell and one monosomic cell
What is the result of anaphase lag? One normal cell and one monosomic cell
This is the MOST common of the chromosomal disorders and is the major cause of mental retardation? Trisomy 21 (1/700)
What is the most common cause of trisomy 21? Meitoic non-disjunction
Which parent is the extra chromosom in trisomy 21 usually from? Maternal (non-disjunction occurs in the ovum of elderly women)
What results if there is a mitotic non-disjunction of chromosome 21 during early stages of embryogenisis (as it applies to Down Syndrome)? Mosaicism (maternal age is of no importance)
What are the classic diagnostic clinical features of trisomy 21? flat facial profile, oblique palpebral fissures, epicanthic folds
What is responsible for the majority of deaths in infancy and early childhood in patients with trisomy 21? Congenital heart disease (ASD, AVD)
What do trisomy 21 children have a 10-20 increased risk of developing? Acute leukemia (acute megakaryoblastic leukemia)
Trisome 21 patients older than 40 develop what? Neurological disorders characteristic of Alzheimer disease
This baby has low set ears, micrognathia, and rocker bottom feet, he will develop mental retardation, what is a possible diagnosis? Edwards (trisomy 18)
This baby is born with a cleft lip and palate, microphthalmia, polydactyly, and microcephaly? Patau Syndrome (trisomy 13)
These two syndromes are a result of deletion of 22q11.2 gene? DiGeorges Syndrome and Velocardiofacial syndrome
A patient with thymic hypoplasia and hypocalcemia comes in, genetic testing reveals a deletion of 22q11.2? DiGeorges Syndrome
This disease is characterized by facial dysmorphism (prominent nose and retrognathia), cleft palate, cardiovascular anomalies and learning disabilities? Velocardiofacial syndrome
Patients with velocardiofacial syndrome and DiGeorge are at a particular high risk of developing what other problems? Psychotic illness (schizo and bipolar + ADHD)
What does XIST do? A gene producing a noncoding RNA which coats the X-chromosome inactivating it
T/F the higher the number of X xhromosomes, the greater the likelihood of mental retardation? TRUE;
This condition results in male hypogonadism when there are two or more X chromosomes, males have an elongated body, lack secondary sexual features, and are predisposed to type 2 diabetes and metabolic syndrome? Klinefelter Syndrome XXY
What is the molecular reason for hypogonadism in Klinefelter if There is Y and X? Non-random inactivation of the X with the shorter CAG repeat on the gene with the androgen receptor
This disorder is a result of monosomy of the X chromosome, and results in hypogonadism of the phenotypic female, short stature, coarctation of the aorta, and webbing of the neck, as well as failure of developing normal secondary characteristics? Turner Syndrome
Streak ovaries, short stature (loss of SHOX gene), coarctation of the aorta? Turners
What is the single most important cause of primary amenorrhea? Turners
What are some of the concurrent debilitating processes that some turners patients possess or aquire? hypothyroidism (autoantibodies); glucose intolerance; obesity; insulin resistance (worsened by growth hormone therapy)
Congenital adrenal hyperplasia can lead to what sex related disorder in females? psuedohermaphroditism (early exposure of androgens virilizes external genitalia)
What is the most common cause of male pseudohermaphroditism? complete androgen insensitivity syndrome (x-linked recessive)
What are the two distinct types of trinucleotide repeat disorders? Coding (polyglutamine diseaseas) and Non coding
Trinucleotide repeats disorders which involve a gain of function, toxic metabolite production, or protein misfolding and aggregation leading to intranuclear inclusions are seen in the (coding/non-coding) types? Coding
Fragile X syndrome, friedrich ataxia and myotonic dystrophy are part of which class of trinucleotide disorders (coding or non-coding)? Non coding (loss of function; wide systemic effects)
This disorder is the 2nd most common cause of mental retardation; more prevalent in males; defected FMR1; Long face with large mandible, large everted ears, large testicles, hyperextensible joints, and mitral valve prolapse also seen? Fragile X
This feature is found in 90% of males with Fragile X? Macro-orchidism
Fragile X displays anticipation, what is this? disease worsens with each successive generation
What causes expansion of repeats in fragile X (spermatogenesis or oogenesis)? Oogenesis (female progeny have a greater chance of getting)
What is the molecular basis of Fragile X? FMRP defect (brain and testis) a reduction of FMRP results in INCREASED translation of the bound mRNA at synaptic junctions
What kind of inheritence does Leber hereditary optic neuropathy display? Maternal (mitochondrial)
Mental retardation, short stature, hypotonia, small hands and feet, and a deletion of a small area of the paternal chromosome 15? Prader Willi
This patient has had history of seizure, walks in with an ataxic gait, and laughs inappropriatly. Where is his genetic abnormality found? Chromosome 15 (maternal)__Angelman
If a person inherits both copies of chromosome 15 from the mother, they will have what syndrome? Prader Willi
If a person inherits both copies of chromosome 15 from the father, what are some likely symptoms? mental retardation, ataxic gait, and innapropriate laughter (AngelMan)
What gene is affected in Angelman syndrome? Ubiquitin Ligase
What is a possible explanation of a phenotypically normal parent (couple) to have more than one affected child (assuming autosomal dominance)? Gonadal Mosaicim (a new mutation only affecting the germ line will be passed on but will not affect the carriers)
If the disease-associated gene is known, what is the method of choice for detection of the causative mutation? Direct sequencing (if you don't know, use linkage analysis with markers such as SNP)
Describe a typical GWAS study? take HAPMAP and select SNPs > make SNP chip > compare DNA from individuals With and Without trait > ID over-repressented SNPS > find candidate gene and do secondary study
This technique involves looking at DNA and although rarely used still is useful for Fragile X like diseases? Southern Blotting
What technique hybridizes flourescently labeled probes to entire metaphase fixed chromosomes? Chromosome painting (FISH)
The study of certain modification of DNA such as methylation and acetylation is termed? Epigenetics
Created by: lamsonma



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