Ravi   Vijayvargia

Department of Biochemistry, MS University of Baroda,  Vadodara

Department of Biochemistry , MS University of Baroda, Sayajigunj ,
Vadodara , Gujarat ,
India , 390002

I am a :   Junior Faculty in India (<7 years)

About my work

Huntington’s disease (HD) is a rare progressive and fatal neurodegenerative disease, characterized by motor, cognitive and personality disorders with progressive dementia. It is an autosomal dominant disease caused by a mutation that triggers the expansion of CAG-repeat in the first exon of the HTT gene, located on the short arm of chromosome 4 (4p16.3). The gene encodes huntingtin protein, where the expanded CAG results in a longer polyglutamine tract in the N-terminal of the protein. The age of onset of HD is inversely correlated with CAG repeat length. Alleles that bear 34 or fewer copies of the CAG repeat result in a normal phenotype while >39 copies show complete penetrance and inevitably cause the HD phenotype, at some stage of life.The prevalence of HD is 5-10 per 100,000 individuals in Caucasian populations of North America and Western Europe. There is a little data available on prevalence of HD among Indian population and genetic testing for HD is not available.The main focus of the lab is 1. Determining the impact of expanded polyglutamine tract in HD on native structure of huntingtin and 2. To carry out in depth epidemiological study of Indian population to determine the prevalence of HD

Ravi Vijayvargia's picture