Which of the following is an example of Trinucleotide repeat mutation?
**Core Concept:**
Trinucleotide repeat mutations are genetic variations characterized by the expansion or contraction of trinucleotide sequences in the DNA. These sequences are composed of three nucleotides - adenine (A), guanine (G), cytosine (C), and thymine (T) or uracil (U) in RNA - and the mutations can lead to genetic disorders.
**Why the Correct Answer is Right:**
The correct answer is C. Spinocerebellar ataxia type 1 (SCA1) is an example of a trinucleotide repeat mutation. SCA1 is caused by the expansion of the CAG trinucleotide repeat on chromosome 6. The normal range for CAG repeats is 10-35, while in SCA1, the number of CAG repeats increases to more than 36, leading to the production of an abnormal protein called ataxin-1, which contributes to the neuronal dysfunction and degeneration observed in SCA1.
**Why Each Wrong Option is Incorrect:**
A. Huntington's disease (HD) is caused by the expansion of CAG repeats, but the correct answer is not among the options. HD is caused by a CAG repeat expansion of more than 35, resulting in the production of a mutant huntingtin protein that leads to neuronal toxicity, gliosis, and eventually, the characteristic neurological symptoms of HD.
B. Tuberous sclerosis complex (TSC) is caused by mutations in TSC1 and TSC2 genes, not trinucleotide repeat mutations. TSC is characterized by the development of benign tumors in various organs, leading to the clinical manifestations of TSC.
D. Fray syndrome is caused by a mutation in the FMR1 gene, not trinucleotide repeat mutations. Fray syndrome is characterized by intellectual disability, seizures, and distinctive facial features due to the absence of the FMRP protein.
**Clinical Pearl:**
Trinucleotide repeat mutations are a type of genetic variation that can lead to a wide range of neurological disorders. Understanding these mutations is essential for diagnosing and managing patients with these conditions. Always verify the correct diagnosis by genetic testing when faced with a suspected case, as the treatment and prognosis depend on the specific genetic mutation involved.