Huntington's disease DNA and the HTT gene

By SWA

Huntington's disease is an autosomal dominant disorder, meaning a person needs only one copy of the nontypical gene to develop the disorder. DNA about the HTT gene, which typically has 40 to 50 CAG repeats.

Huntington's disease is a genetic disorder caused by mutations in the HTT gene. This gene is located on chromosome 4 and is responsible for producing a protein called huntingtin. The key feature of the mutation in Huntington's disease is the expansion of a specific DNA sequence known as a CAG repeat.

In the HTT gene, CAG repeats normally range from about 10 to 35 in the general population. However, in individuals with Huntington's disease, this sequence is abnormally expanded, typically to 40 to 50 repeats, although it can be even higher. This expanded repeat results in the production of an altered form of the huntingtin protein, which is toxic to certain types of brain cells.

Huntington's disease is an autosomal dominant disorder, which means that inheriting just one copy of the mutated gene from one parent is enough to cause the disorder. If one parent has the mutation, each child has a 50% chance of inheriting the gene and, consequently, developing the disease.

The symptoms of Huntington's disease usually appear in mid-adult life, typically between the ages of 30 and 50. They include uncontrolled movements, emotional problems, and loss of thinking ability. The disease progressively worsens over time, leading to significant physical and cognitive decline.

There is currently no cure for Huntington's disease, and treatment is focused on managing symptoms. Research is ongoing to better understand the disease and to develop therapies that can slow or stop its progression.

 

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