HTT gene (Research) Research: Understanding the function of the huntingtin protein and the mechanisms underlying Huntington’s disease is an active area of research. Scientists are investigating potential treatments aimed at reducing the toxic effects of the mutated huntingtin protein and slowing the progression of the disease.
HTT gene (Disease Mechanism) Disease Mechanism: The mutated huntingtin protein accumulates in nerve cells, particularly in the basal ganglia of the brain. This accumulation leads to dysfunction and eventual death of nerve cells, causing the characteristic symptoms of Huntington’s disease, including motor dysfunction, cognitive impairment, and psychiatric symptoms.
HTT gene (Inheritance Pattern) Inheritance Pattern: Huntington’s disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated HTT gene from either parent to develop the disease. If a parent has Huntington’s disease, each child has a 50% chance of inheriting the mutated gene.
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 […]