Biochem Biophys Res Commun. 1990 Oct 30;172(2):646-51.

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.

Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A.

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Department of Pediatrics, Kumamoto University Medical School, Japan.

Abstract

We cloned and sequenced cDNAs of the E1 alpha and E1 beta subunits of the branched chain alpha-ketoacid dehydrogenase complex (BCKDH) in two cell lines derived from two different Menonite MSUD patients (GM 1655, GM 1099). A T-to-A substitution which generates an asparagine in place of a tyrosine at amino acid 394 of the mature E1 alpha subunit was present in both alleles in these two cell lines, whereas cDNAs of the E1 beta subunit in these cell lines were identical to that of normal human lymphoid cell line and that of the clone from a human placenta cDNA library. It is suggested that the Menonite MSUD is caused by the missense mutation of the E1 alpha subunit of the BCKDH complex.

PMID:: 2241958; [PubMed - indexed for MEDLINE]

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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. [J Clin Invest. 1990]
Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
Nobukuni Y, Mitsubuchi H, Endo F, Akaboshi I, Asaka J, Matsuda I. J Clin Invest. 1990 Jul; 86(1):242-7.
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. [Adv Enzyme Regul. 1990]
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW. Adv Enzyme Regul. 1990; 30:245-63.
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Zhang B, Healy PJ, Zhao Y, Crabb DW, Harris RA. J Biol Chem. 1990 Feb 15; 265(5):2425-7.
Review [Gene analysis of maple syrup urine disease (MSUD)]. [Rinsho Byori. 1993]
Review [Gene analysis of maple syrup urine disease (MSUD)].
Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I. Rinsho Byori. 1993 May; 41(5):484-91.
Review Maple syrup urine disease: it has come a long way. [J Pediatr. 1998]
Review Maple syrup urine disease: it has come a long way.
Chuang DT. J Pediatr. 1998 Mar; 132(3 Pt 2):S17-23.

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Cited by 2 PubMed Central articles

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. [J Clin Invest. 1991]
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I. J Clin Invest. 1991 May; 87(5):1862-6.
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. [Am J Hum Genet. 1991]
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
Fisher CR, Fisher CW, Chuang DT, Cox RP. Am J Hum Genet. 1991 Aug; 49(2):429-34.

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A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-k...
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Biochem Biophys Res Commun. 1990 Oct 30 ;172(2):646-51.

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