Tay-Sachs Disease (Lysosome)
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Clinical findings = normal at birth; abnormal accumulation of lipids in some cells; Gradual onset of retarded neurological development; Increase head size
Brain and macular degeneration; Seizures, convulsions, death by 2 years; Brain weight increased by 50%; Neurons have lipid-containing lysosomes; Very rare
What are newly formed lysosomes called? Are they active?
Primary lysosomes are NOT active until they merge w/ an endosome, which is then a secondary lysosome (active)
What happens to membrane receptors after primary lysosome binds with endosome?
CURL; Compartment of Uncoupling of Receptor and Ligand
What are the 3 major, specific functions of lysosomes?
Autophagy, Heterophagy, and “External Operations”
What is Autophagy? What is Heterophagy?
Auto = Self-digestion Hetero = Digestion of foreign materials
What does ‘Hex A’ hexosaminidase A do? If missing, what happens?
breaks down gangliosides (key elements in myelin) If missing, breakdown doesn’t happen and lipid accumulates