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These studies suggest that CAG triplet expansion leads to neurodegeneration in Huntington's disease through mechanisms such as misfolded huntingtin protein, intranuclear neuronal inclusions, and increased neurotransmission, all of which correlate with the length of the CAG repeat.
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Huntington's disease (HD) is a neurodegenerative disorder caused by an expansion of CAG triplet repeats in the HTT gene, leading to the production of an abnormally long polyglutamine tract in the huntingtin protein. This mutation results in a range of clinical symptoms and progressive neurodegeneration.
Polyglutamine Aggregation and Neurotoxicity:
Intranuclear Inclusions:
Gain-of-Function Mutation:
Correlation with Clinical Features:
Instability of CAG Repeats:
Early Pathogenesis and Neurotransmission:
The expansion of CAG triplet repeats in the HTT gene leads to the production of a mutant huntingtin protein with an abnormally long polyglutamine tract. This results in protein misfolding, aggregation, and the formation of intranuclear inclusions, which are directly linked to neurotoxicity and neurodegeneration. The length of the CAG repeat expansion correlates with the severity and onset of clinical symptoms, and the instability of these repeats further exacerbates the disease. Additionally, early changes in neurotransmission may contribute to the initial stages of neurodegeneration in HD.
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