Lysosomal Storage Disease Handouts Flashcards
Mucolipidosis 2 cause
Mutation affecting enzyme that labels other enzymes for delivery to lysosome
Multiple sulfatase deficinecy cause
Failure of processing in the ER can inactive whole class of enzymes
Danon disease cause
Defects in protein that helps endosomes and autophagosomes fuse with the lysosome
Gaucher’s disease and hunter syndrome cause
Defects in processing enzymes allow undigested material to accumulate
Cystinosis/salic acid storage disease cause
Loss of transport protein causesing lysosome to retain molecular bulding blocks
Bone-marrow transplant process
Haemotopoeitic stem cells of host are wiped out and replaced with healthy donor
Enzyme replacement therapy
Replace missing or defective znymes…internalized by cells and delivered to lysosomes
Sibstrate-reduction therapy
Blocks over production of materials that would otherwise accumulate
Chaperone therapy
Products or refolds mutant enzymes…prevents them from being degraded in ER and ejected and allows them to reach lysosome
Gene therapy
Functional enzyme producing gene is inserted
Problem with most LSD therapies, especially enzyme replacements
Can’t cross BBB
Mutation in GBA gene
Causes Gaucher’s dz and is main risk factor for parkinsons
Niemann-pick type C people also exhbiti
Alzheimers symptoms
Drugs that boost GBA activity
Could eliminate toxic aggregates of alpha-synuclein from parkinsonian cells
Lysosome communicates with
Nucleus via gene network
