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Cell Bio Diseases

Key concepts for cell biology diseases

QuestionAnswer
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
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