Lecture 8 : lysozomal storage diseases + Alzheimer's disease

Question 1

2 types of lysosomal storage diseases u need to know

Answer 1

niemann-pick type C
gaucher disease

Question 2

what type of disease in niemann pick type C

Answer 2

ER misfolding disease
affects NPC1 (a membrane protein that’s synthesised at ER)

Question 3

what does NPC1 do

Answer 3

transports cholesterol released from LDLs into the cytosol

Question 4

what lysosomal acid is affected by Gaucher disease

Answer 4

Beta glycosidase
is misfolded so gets retained in ER

Question 5

what accumulates in absence of beta glucosidase

Answer 5

glucosylceramide (and other glycolipids in lysosomes)

Question 6

what type of cells have high amount of glucosylceramide

Answer 6

macrophages
these are therfore most affected by gaucher disease

Question 7

what signals for proteins that are transported to lysosomes

Answer 7

mannose 6 phosphate

Question 8

potential treatment for gaucher disease - enzyme replacemtnt therapy

Answer 8

injecting synthetic enzymes that get taken into cell and reach lysosome via mannose 6 phosphate receptors

Question 9

potential treatment for gaucher disease - substarte reduction therapy

Answer 9

reduce amount of glycosylceramide in the lysosomes

Question 10

potential treatment for gaucher disease - pharmacological chaperones

Answer 10

promotes correct folding so the enzymes can escape the ER