Question

What is the biochemical outcome of Zellweger's (disease) mutated protein?

What is the biological consequence of the mutation?

How does the mutation lead to a defective biochemical pathway that leads to the phenotype?

Does the mutations affect the promoter? If so, explain

Answer 1

# Zellweger's disease is characterised by reduction or absence of functional peroxisomes in the cells.

# Yes, it is an outcome of mutation in the genes that encode peroxins, a protein assembles the normal peroxisomes. Mutation in PEX1, PEX2 and other PEX genes causes this disease.

# This mutation causes impaired brain development, hypomyelination, hepatomegaly and hypotonia.

# As a result of impaired function of peroxisomes, very long chain and branched chain fatty acids accumulate in the cells or tissues of the patients which would normally be degraded in normal peroxisomes. Accumulation of these fatty acids impair the normal function of the multiple organs.