Question

3. Abnormal functioning of which cell organelle (and its contents) leads to a lethal

congenital neurodegenerative disorder. Also name the disorder. Provide answer with

reference to your course. (1)​

Answer 1

Answer:

Batten disease is an inherited genetic disorder that appears to affect the function of tiny bodies within cells called lysosomes.

Explanation:

Lysosomes are the “recycle bin” of the cell and regularly break down waste, proteins, and naturally occurring fatty compounds called lipids into smaller components that can be discarded out of the cell or recycled. Lipids include fatty acids, oils, waxes, and sterols. In Batten disease/NCLs, the mutated genes do not produce the proper amounts of proteins important for lysosomal function. Each gene (representing a form of the disease) provides information for a specific protein that is in turn, defective and not produced. These proteins are needed for brain cells (neurons) and other cells to work efficiently. The lack of a functional protein causes the abnormal buildup of “junk” material in the lysosomes—as well as the abnormal buildup of the residue called lipofuscin that occurs naturally as part of the lysosomal breakdown of lipids. It is not known whether the lipofuscin itself is toxic or if the buildup is a marker of impaired lysosomal function.

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