Organelles - Diseases

Question 1

Tay-Sachs disease

Answer 1

Enzyme deficiency: hexosaminidase
Glycolipids (gangliosides) accumulate in lyosomes of neurons
Neurodegenerative disorder
High prevalence in children of central European Jewish descent
Death by 4yo

Question 2

Hurler Syndrome

Answer 2

1 of 10 enzymes that involve sequential degradation of GAGs
GAGs accumulate in lysosomes of brain, heart, liver
Neurological changes
Skeletal deformities
Death by 10yo

Question 3

Glycogen storage diseases

Answer 3

10 distinct ones

Glycogen accumulates in liver, skeletal muscle, heart

Question 4

Zellweger Syndrome

Answer 4

Absence of peroxisomal enzymes
Empty peroxisomes by EM
Peroxisomal enzyme may be synthesized, but are “lost” in the cyto
Infants die w/i a few months
Cells accumulate long-chain FA and branched chain FA
Disrupts function of multiple organ systems
Deficient levels of plasmalogens, important for brain and lung function

Question 5

Adrenoleukodystrophy

Answer 5

Failure of beta-oxidation of FA

lipids accumulate in nervous system and in adrenal glands

Question 6

Sphingolipidoses

Answer 6

Defect in the ability to break down lipids. End up with 100-1000 times the normal level of glycolipids (gangliosides) accumulating in the lysosomes of neurons