Lecture by Dr. Ranjana Arya (JNU)
Channel: Genomics In India
Date: 27/02/2015

Dr. Ranjana Arya is an Assistant Professor at the School of Biotechnology at Jawaharlal Nehru University (JNU), New Delhi. 

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM) is an autosomal recessive myopathy with progressive muscle disorders and is pathologically characterized by formation of numerous autophagosomes called rimmed vacuoles. HIBM has been identified in Indian patients with compound and heterozygous genotype. DMRV/HIBM usually starts to affect adults from 15 years of age upto 40 years, with an average onset of 26 years and with an initial symptom of altered gait. However, the precise mechanism that leads to the formation of rimmed vacuoles has remained elusive. DMRV/HIBM is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes a bifunctional enzyme that catalyzes the rate-limiting step in sialic acid biosynthesis. The status of sialylation in wild type vs mutant GNE cell lines is not clear. In the laboratory, we are interested to study the effect of various GNE mutations on sialylation of proteins and formation of rimmed vacuoles in mammalian cells. This would provide insights into many biological processes such as cell adhesion and signal transduction which is associated with sialylation of glycoproteins and glycolipids.