Sickle cell disease is caused by which type of mutation?

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Question: Sickle cell disease is caused by which type of mutation?

Option 1: Frameshift mutation. A frameshift mutation involves insertions or deletions that alter the reading frame of the gene, typically resulting in a completely different downstream amino acid sequence and a truncated or nonfunctional protein. This is not the classic mechanism behind sickle cell disease, which is due to a single amino acid substitution rather than a shift in the reading frame.

Option 2: Missense mutation. A missense mutation is a single nucleotide change that results in the incorporation of a different amino acid into the protein. Sickle cell disease arises from a substitution of valine for glutamic acid at the sixth position of the beta-globin chain (Glu6Val), which is exactly a missense change. This alteration changes the protein’s properties and leads to the pathophysiology of the disease.

Option 3: Nonsense mutation. A nonsense mutation introduces a premature stop codon, truncating the protein. While such mutations can be severely deleterious, sickle cell disease is not caused by a truncated beta-globin chain; it is caused by a single amino acid substitution, not a premature termination.

Option 4: Splice-site mutation. Splice-site mutations affect RNA splicing, potentially producing abnormal mRNA and protein, but sickle cell disease is not classically explained by splicing errors. The hallmark mutation is a coding region missense substitution, not a splice-site defect.

In summary, the disease mechanism described here aligns with a single amino acid substitution in the beta-globin chain, which corresponds to a missense mutation, whereas the other mutation types involve frameshifts, premature stops, or altered splicing and do not match the established cause of sickle cell disease.

MEDS2013 (ND) Week 8 Practice Quiz

Sickle cell disease is caused by which type of mutation?

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