Key concepts for cell biology diseases
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
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| Tay Sach's Disease: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Hesozamanadase A
*Ganglioside GM2
*Cherry red macula
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| Hurler Syndrome: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Iduronidase
*GAGs
*Corneal clouding
*Hepatosplenomegaly
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| Hunter Syndrome: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*I2S enzyme
*GAGs
*Clear corneas
*Hepatosplenomegaly
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| 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
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| 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)
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| Zellweger Syndrome: Cellular/Molecular cause and key symptoms: | *Protein transport disease
*Enzymes from ER can't enter peroxisome
*No SKL tag
*Profound hypotonia
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| TSE: Cellular/Molecular cause and key symptoms: | *Prion Disease
*Abnormal variant protein induces abnormal folding of normal protein.
*PRPsc accumulates
*Personality changes
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| X-Linked Adrenoleukodystrophy: Cellular/Molecular cause and key symptoms: | *Membrane transport disease
*VLCFAs cannot enter peroxisome
*ABCD1 is mutated
*Lipids accumulate
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| Cystic Fibrosis: Cellular/Molecular cause and key symptoms: | *Membrane transport disease
*CFTR misfolded/destroyed
*Progressive lung disease
*Pancreatic insufficiency
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| 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
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| Gaucher's Disease: Cellular/Molecular cause and key symptoms: | *Lysosome disease
*Glucocerebrosidase enzyme
*Glucocerebroside accumulates
*Characteristic macrophages
*BONE PROBLEMS
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| 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
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| 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
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| Familial Hypercholesterolemia: Cellular/Molecular cause and key symptoms: | *Receptor-mediated endocytosis disease
*LDLR mutated (6 types)
*LDL endocytosis disrupted
*Xanthomas
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| 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
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| 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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