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Bashyam, M.D. and Chaudhary, A.K. and Sinha, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Reddy, E.C. and Dalal, Ashwin (2012) Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. Journal of Cellular Biochemistry, 113 (10). pp. 3122-3132. ISSN 0730-2312

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Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid dehydrogenase enzyme complex. Mutations in BCKDHA, BCKDHB, and DBT, that encode important subunits of the enzyme complex namely E1α, E1β, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting classical MSUD symptoms. BCKDHA and BCKDHB mutations were identified in four and five patients, respectively including seven novel mutations namely the BCKDHA c.1249delC, c.1312T>C, and c.1561T>A and the BCKDHB c.401T>A, c.548G>A, c.964A>G, and c.1065delT. The BCKDHB c.970C>T (p.R324X) mutation was shown to trigger nonsense mediated decay-based degradation of the transcript. Seven of the total 11 mutations resulted in perturbations in the E1α or E1β C-termini either through altered termination or through an amino acid change; these are expected to result in disruption of E1 enzyme complex assembly. Our study has therefore revealed that BCKDHA and BCKDHB mutations might be primarily responsible for MSUD in the Indian population. Copyright © 2012 Wiley Periodicals, Inc

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 04 Sep 2015 11:17
Last Modified: 14 Sep 2017 12:36
URI: http://cdfd.sciencecentral.in/id/eprint/478

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