Huntington’s disease (HD), also known as Huntington’s chorea, is a rare autosomal dominant basal ganglia disease that occurs mainly in the middle-aged and elderly population, with slowly progressive exacerbations that can eventually lead to death.

HD is caused by mutations in the huntingtin gene (HTT), located on the short arm of chromosome 4. The gene contains a polymorphic trinucleotide repeat expansion, CAG repeats of cytosine-adenine-guanine. A series of CAG repeats results in the production of a polyglutamine tract (or polyQ tract).

When the number of CAG repeats exceeds 40, there is an abnormal amplification of glutamines in the polyQ region.

This leads to the misfolding of HTT protein fragments, which interact with a substantial number of proteins and accumulate in the nucleus and nerve terminals, causing neuronal damage and affecting a wide region of the brain.

Although the genetic pathogenesis of HD has been demonstrated since 1993, there are currently no effective treatments to halt the disease’s progression.

GemPharmatech has developed HD models that can simulate the clinical symptoms and dysfunctional phenotypes of HD to help assess the efficacy and safety of potential HD therapies.