Analysis of gene mutations among South Indian patients with maple syrup urine disease: Identification of four novel mutations.

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dc.contributor.authorNarayanan, M P
dc.contributor.authorMenon, Krishnakumar N
dc.contributor.authorVasudevan, D M
dc.date.accessioned2014-02-04T09:23:39Z
dc.date.available2014-02-04T09:23:39Z
dc.date.issued2013-10
dc.description.abstractMaple 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 α-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.130C>T in BCKDHA gene, c. 599C>T and c.121_122delAC in BCKDHB gene and c.190G>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.en_US
dc.identifier.citationNarayanan M P, Menon Krishnakumar N, Vasudevan D M. Analysis of gene mutations among South Indian patients with maple syrup urine disease: Identification of four novel mutations. Indian Journal of Biochemistry & Biophysics. 2013 Oct; 50(5): 442-446.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/150254
dc.language.isoenen_US
dc.source.urihttps://nopr.niscair.res.in/handle/123456789/22645en_US
dc.subjectMaple syrup urine diseaseen_US
dc.subjectBCKD complexen_US
dc.subjectBCKDHAen_US
dc.subjectBCKDHBen_US
dc.subjectDBTen_US
dc.subjectMutation analysisen_US
dc.subject.mesh3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) --genetics
dc.subject.meshDNA Mutational Analysis
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMaple Syrup Urine Disease --enzymology
dc.subject.meshMaple Syrup Urine Disease --genetics
dc.subject.meshMutation
dc.subject.meshPhenotype
dc.titleAnalysis of gene mutations among South Indian patients with maple syrup urine disease: Identification of four novel mutations.en_US
dc.typeArticleen_US
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