ABSTRACT

Huntington's disease (HD) is an inherited neurodegenerative disease caused by an expansion of a repeating CAG triplet series in the huntingtin gene on chromosome 4, resulting in a protein with a tremendously long polyglutamine sequence. Huntington's disease belongs to a large variety of polyglutamine repeat diseases, all of which are neurodegenerative diseases. It is inherited in an autosomal dominant manner so that every child from an affected parent has a 50% chance of developing the disease. The HD gene was identified in 1993. It contains a repeating sequence of three base pairs called a trinucleotide repeat. An excessive number of CAG repeats in the gene results in a protein that contains an excessive number of glutamine units. The normal function of huntingtin is unknown, but the extended polyglutamine sequence in the huntingtin protein is in some ways toxic to brain cells. Just like other polyglutamine expansion disorders, certain neurons appear to be more prone to damage in Huntington's disease. The pathophysiology of Huntington's disease and the cellular mechanisms underlying it are obscure and complicated, making it difficult for clinicians, doctors, neurologists, and researchers to diagnose the disease and devise the approach to developing new drug candidates for the disorder. There is currently no cure or treatment that can stop, slow, or reverse the progression of the disease, but still, researchers are conducting observational studies and clinical trials in order to development-modifying drugs to cure HD patients and increase the survival rate of HD patients. In this review we try to collect information regarding the various interventions which are under the clinical trials for the management of HD. Keywords: Huntington’s disease, huntingtin gene, chorea, tetrabenazine
Publication date: 01/02/2023

https://ijbpas.com/pdf/2023/February/MS_IJBPAS_2023_6864.pdf

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https://doi.org/10.31032/IJBPAS/2023/12.2.6864