Back close

Analysis of Gene Mutations among South Indian Patients with Maple Syrup Urine Disease: Identification of Four Novel Mutations

Publication Type : Journal Article

Thematic Areas : Medical Sciences, Nanosciences and Molecular Medicine

Publisher : Indian Journal of Geo-Marine Sciences, National Institute of Science Communication and Information Resources (NISCAIR),

Source : Indian Journal of Geo-Marine Sciences, National Institute of Science Communication and Information Resources (NISCAIR), Volume 50, Number 5, p.442-446 (2013)

Url : http://www.scopus.com/inward/record.url?eid=2-s2.0-84924238919&partnerID=40&md5=a4c1f449c2ef1c4608e5f9129031d374

Keywords : Acer

Campus : Kochi

School : Center for Nanosciences, School of Medicine

Center : Amrita Center for Nanosciences and Molecular Medicine Move, Nanosciences

Department : Nanosciences and Molecular Medicine

Year : 2013

Abstract : Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched-chain a-keto acid dehydrogenase complex, respectively. Because disease causing mutations play a major role in the development of the disease, prenatal diagnosis at gestational level may have significance in making decisions by parents. Thus, this study was aimed to screen South Indian MSUD patients for mutations and assess the genotype-phenotype correlation. Thirteen patients diagnosed with MSUD by conventional biochemical screening such as urine analysis by DNPH test, thin layer chromatography for amino acids and blood amino acid quantification by HPLC were selected for mutation analysis. The entire coding regions of the BCKDHA, BCKDHB and DBT genes were analyzed for mutations by PCR-based direct DNA sequencing. BCKDHA and BCKDHB mutations were seen in 43% of the total ten patients, while disease-causing DBT gene mutation was observed only in 14%. Three patients displayed no mutations. Novel mutations were c.130Cgt;T in BCKDHA gene, c. 599Cgt;T and c.121_122delAC in BCKDHB gene and c.190Ggt;A in DBT gene. Notably, patients harbouring these mutations were non-responsive to thiamine supplementation and other treatment regimens and might have a worse prognosis as compared to the patients not having such mutations. Thus, identification of these mutations may have a crucial role in the treatment as well as understanding the molecular mechanisms in MSUD. © 2013 National Institute of Science Communication and Information Resources (NISCAIR). All rights reserved.

Cite this Research Publication : M. P. Narayanan, Dr. Damodaran Vasudevan, and Krishnakumar N. Menon, “Analysis of Gene Mutations among South Indian Patients with Maple Syrup Urine Disease: Identification of Four Novel Mutations”, Indian Journal of Geo-Marine Sciences, vol. 50, pp. 442-446, 2013.

Admissions Apply Now