Question | Answer |
Tay Sach's Disease: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Hesozamanadase A
*Ganglioside GM2
*Cherry red macula |
Hurler Syndrome: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Iduronidase
*GAGs
*Corneal clouding
*Hepatosplenomegaly |
Hunter Syndrome: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*I2S enzyme
*GAGs
*Clear corneas
*Hepatosplenomegaly |
Inclusion Cell Disease: Cellular/Molecular cause and key symptoms: | *Protein transport disease
*Golgi-specific GlcNAc phosphotransferase
*Acid hydrolases can't enter lysosome
*M6P in golgi |
Alzheimer Disease: Cellular/Molecular cause and key symptoms: | *Protein misfolding disease
*APP abnormally cleaved by secretase
*Neurotoxic peptide
*Neurofibullar tangle hyperphosphorylated tau
*APP on chromosomes 21 (Downs) |
Zellweger Syndrome: Cellular/Molecular cause and key symptoms: | *Protein transport disease
*Enzymes from ER can't enter peroxisome
*No SKL tag
*Profound hypotonia |
TSE: Cellular/Molecular cause and key symptoms: | *Prion Disease
*Abnormal variant protein induces abnormal folding of normal protein.
*PRPsc accumulates
*Personality changes |
X-Linked Adrenoleukodystrophy: Cellular/Molecular cause and key symptoms: | *Membrane transport disease
*VLCFAs cannot enter peroxisome
*ABCD1 is mutated
*Lipids accumulate |
Cystic Fibrosis: Cellular/Molecular cause and key symptoms: | *Membrane transport disease
*CFTR misfolded/destroyed
*Progressive lung disease
*Pancreatic insufficiency |
Huntington's disease: Cellular/Molecular cause and key symptoms: | *Protein misfolding disease
*Autosomal dominant
*Polyglutamine expansion >40 copies (IT15)
*Anticipation
*Huntingtin aggretates in neurons
*Personality changes, Chorea |
Gaucher's Disease: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Glucocerebrosidase enzyme
*Glucocerebroside accumulates
*Characteristic macrophages
*BONE PROBLEMS |
Leber's Hereditary Optic Neuropathy: Cellular/Molecular cause and key symptoms: | *Mitochondria disease
*NADH dehydrogenase
*Blindness in one eye, then other eye
*Mitochondrial DNA from mom only |
Hereditary Spherocytosis: Cellular/Molecular cause and key symptoms: | *Cytoskeltal disease
*Ankyrin 1 or Spectrin gene mutation
*PM uncouples cytoskeleton
*RBCs swell/lyse
*Anemia/Pallor/Fatigue |
Familial Hypercholesterolemia: Cellular/Molecular cause and key symptoms: | *Receptor-mediated endocytosis disease
*LDLR mutated (6 types)
*LDL endocytosis disrupted
*Xanthomas |
6 LDLR mutations | 1. Can't make LDLR in ER
2. Can't export LDLR from ER
3. Can't bind LDLR vesicle with PM
4. LDLR inactive on PM
5. LDLR binds without endocytosis
6. LDL-bound LDLR vesicle cannot bind endosome |
Pompe's Disease: Cellular/Molecular cause and key symptoms: | *Glycogen Storage Disease
*a-1-4-Glucosidase
*Glycogen accumulates in cells
*Hypotonia
*Cardiomegaly
*RDS
*Glycogen in tissues |