Lysosomal storage disorders are neurodegenerative genetic diseases; the same mutations are predictors of Alzheimer’s, Parkinson’s, and frontotemporal dementia, so they’re relevant for aging as well.
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Monther Abu-Remaileh identified the function of CLN3, the protein deficient in the lysosomal storage disease Batten’s Disease.
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It’s a membrane transporter for the products of breakdown of the phospholipids in the cell membrane; without the transporter, you get aggregate buildup of these lipid fragments. Discovered by comparing the metabolome inside and outside the lysosome, in mutant & normal samples.
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Again, methods matter! A new method of isolating whole lysosomes (by “immunoprecipitation”, tagging a surface marker of the organelle & precipitating then out) made this discovery possible.
11:29 AM - 5 Dec 2019
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