Question

short note on storage lipids

Answer 1

Answer:

Neuropathology and Genetics

Lipid storage (especially sphingolipid and unesterified cholesterol) is found in liver and spleen. In the brain, glycolipid storage predominates, often with some decrease in myelin white matter. The condition is inherited as an autosomal recessive trait. Two causative genes are recognized; NPC1 on 18q11 accounts for 95% of cases and NPC2 on 14q24.3 the remaining 5%. The two genotypes are not distinguishable biochemically, both are involved in the intracellular trafficking of lipids but their precise functions are still not fully understood. Over 70 mutations are recognized to date.