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What is an example of a disease caused by misfunction in alternative splicing?

a. Muscular dystrophy.
b. Cystic fibrosis.
c. Neurofibromatosis type 1.
d. Ehlers-Danlos syndrome.

1 Answer

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Final answer:

Spinal muscular atrophy is a disease resulting from alternative splicing errors, where mutations cause incorrect inclusion or exclusion of exons or introns, leading to dysfunctional proteins.

Step-by-step explanation:

An example of a disease caused by dysfunction in alternative splicing is spinal muscular atrophy. Splicing errors can occur due to various mutations, such as a point mutation in a splice site leading to the inclusion or exclusion of an exon or a larger segment of an intron. These errors can lead to the synthesis of improperly functioning proteins, resulting in a variety of diseases, including cancers. Alternative splicing is a crucial process that allows a single gene to produce multiple protein variants, contributing to protein diversity. However, when mutations cause splicing errors, they can result in diseases by producing nonfunctional or deleterious proteins instead of the intended protein variant.

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