Huntington's Disease: Molecular Basis, Pathophysiology and Biomarker

Huntington's disease (HD), a hereditary autosomal dominant neurodegenerative disorder is characterised by weak cognitive and motor functions. The symptoms most commonly prevail among 30-50 years age group people. The coordination and movement abilities gradually worsen, and mental abilities mostly decline that progress towards dementia. The basis behind the HD disease is neuronal death due to mutations in huntingtin (HTT) protein, a protein required for the development and survival of neurons. There is an increase in the number of CAG repeats that generally code for glutamine within the HTT gene, resulting in an expansion of polyglutamine chain in HTT protein. This mutated HTT protein is toxic causing neuronal death and motor dysfunction. There is no known therapy for this disease other than suggestive relief treatment approaches. The review will be discussing here the molecular mechanism, pathophysiology and the potential biomarkers associated with HD.

Keywords: CAG, HD, HTT, Huntingtin disease, Motor disorders.