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AUC: MCB I Block 3 Week 1/2 Diseases
Can you name the AUC: MCB I Block 3 Week 1 - Diseases?
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Be careful when answering, I believe I made the answers fair but not obvious. i.e. I didn't include emerin protein in Emery - Dreifuss muscular dystrophy or spherical RBC in hereditary spherocytosis.
Letter / Answer
Nuclear Substructure Disorder: mutation in SMN protein (located in Gems) leading to defective SnRNPs resulting in loss of motor neurons in the CNS.
e. Hutchinson - Gilford (Progeria) Syndrome
X-Linked Mitochondrial Disorder: Cardiolipin synthesis defect. Symptoms: cardiomyopathy, generalized muscle weakness and fatigue.
Auto recessive, Mutation in lysosomal trafficking regulatory pathway / defect in microtubule polymerization. Autophagocytosis of melanosome leading to albinism.
X-Linked lysosomal storage disease. Deficiency of iduronodate sulphatase leads to buildup of GAGs. Milder Mucopolysaccharide disorder, No corneal clouding.
p. Chediak - Higashi Syndrome
This autosomal recessive inherited disease occurs from a mutation in Chloride ion channel proteins on the plasma membrane. Symptoms: clubbed fingers, respiratory infections, etc.
h. Familial Hypercholesterolemia
This laminopathy is rare, resulting from a lamin A/C protein defect. Fragile nuclear lamina leads to cell death which leads to hypertrophy of the heart and congestive heart failure
This toxin cleaves synaptobrevin (a vsnare) inhibiting ACh release at neuromuscular junction causing flaccid paralysis.
Peroxisomal disorder: PEX gene mutation. Peroxisomes unable to recognize SKL signal so peroxisomes are empty. Buildup of very long chain fatty acids in body.
t. Barth Syndrome
Peroxisomal disorder where allopurnil inhibits xanthine oxidase leading to buildup of uric acid crystals in joints leading to inflammation and joint destruction.
s. X-Linked Adrenoleukodystrophy (XALD)
Disease that occurs from muation in N-acetylglycosamine phosphotransferase which adds the M6P tag to proteins. Results in acid hyrolases secreted extracellularly.
i. Cystic Fibrosis
Disease results from a mutation in the LDL receptor where it folds incorrectly. Symptoms: xanthomata, corneal arcus, or atherosclerosis. Homozygotes are affected more severely.
j. i-Cell Disease (Mucolipidosis II)
Letter / Answer
Mutation where LDL receptors are too far spread out on the PM to be effective.
Most common lysosomal storage disease. Accumulation of the lipid glucocerebroside. Leads to progressive hepatosplenomegaly and other accumulation symptoms.
o. Hurler Syndrome
This laminopathy occurs from a mutation in lamin A/C proteins. Symptoms: contractures (especially of the elbows, ankles, and neck), muscle weakness and atrophy, arrythmias, etc.
a. Acanthocytosis / Spur Cell Anemia
Laminopathy - Lamin A defect results in an unstable nuclear envelope causing a bleb or herniation of the NE. Symptoms: alopecia (premature hair loss), stunted growth, etc.
g. Spinal Muscular Atrophy
Most common peroxisomal disorder. Defect in transport of VLCFAs into peroxisome. VLCFAs accumulate in body. Myelin breakdown and adrenal atrophy.
q. Zellweger Syndrome
An auto recessive lysosomal storage disease and most severe Mucopolysaccharide (MPS) disorder. Deficiency of alpha-L-iduronidase leading to GAG accumulation.
n. Hunter Syndrome
Autosomal Dominant. This disease occurs from a RBC cytoskeleton protein defect. Possible proteins affected: spectrin, ankyrin, or protein 4.1
d. Dilated Cardiomyopathy
This toxin cleaves synaptobrevin (a vsnare) preventing vesicle fusion and release of GABA and glycine (neurotransmitters) resulting in violent spastic paralysis.
m. Gaucher Disease
A laminopathy - Lamin A/C defect where pre-lamin A interacts with adipocyte TF causing accumulation of adipose tissue in face and neck and peripheral lipoatrophy.
c. Hereditary Spherocytosis
Cholesterol accumulates on the outer leaflet of RBC's plasma membrane distorting its shape. Associated with chronic liver disease.
b. Emery - Dreifuss Muscular Dystrophy
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