HTT gene (Genetic Mutation)
Genetic Mutation: Mutations in the HTT gene cause Huntington’s disease, a progressive neurodegenerative disorder. The mutation involves an abnormal expansion of a sequence of three DNA building blocks (cytosine, adenine, and guanine) known as a CAG triplet repeat. Normally, the CAG repeat sequence is repeated 10 to 35 times within the HTT gene.
However, in individuals with Huntington’s disease, the CAG repeat is expanded beyond 35 repeats, leading to the production of an abnormal form of the huntingtin protein.