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Part of this gene is a repeated section called a trinucleotide repeat, which varies in length between individuals and may change length between generations.
If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene.
When the length of this repeated section reaches a certain threshold, it produces an altered form of the protein, called mutant Huntingtin protein (m HTT).
The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms.
Current research directions include determining the exact mechanism of the disease, improving animal models to aid with research, testing of medications to treat symptoms or slow the progression of the disease, and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease.
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