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Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Publication ,  Journal Article
Tanaka, K; Yokota, I; Coates, PM; Strauss, AW; Kelly, DP; Zhang, Z; Gregersen, N; Andresen, BS; Matsubara, Y; Curtis, D
Published in: Hum Mutat
1992

Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids. MCAD deficiency is one of the most frequent inborn metabolic disorders in populations of northwestern European origin. In the compilation of data from a worldwide study of 172 unrelated patients each representing an independent pedigree, a total of 8 different mutations have been identified. Among them, a single prevalent mutation, 985A-->G, was found in 90% of 344 variant alleles. 985A-->G causes glutamate substitution for lysine-304 in the mature MCAD subunit, which causes impairment of tetramer assembly and instability of the protein. Three of 7 rarer mutations have been identified in a few unrelated patients, while the remaining 4 have each been found in only a single pedigree. In addition to tabulating the mutations, the acyl-CoA dehydrogenase gene family, the structure of the MCAD gene and the evolution of 985A-->G mutation are briefly discussed.

Duke Scholars

Published In

Hum Mutat

DOI

ISSN

1059-7794

Publication Date

1992

Volume

1

Issue

4

Start / End Page

271 / 279

Location

United States

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Point Mutation
  • Molecular Sequence Data
  • Lipid Metabolism, Inborn Errors
  • Humans
  • Genetics & Heredity
  • DNA Mutational Analysis
  • DNA
  • Biological Evolution
  • Base Sequence
 

Citation

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ICMJE
MLA
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Tanaka, K., Yokota, I., Coates, P. M., Strauss, A. W., Kelly, D. P., Zhang, Z., … Curtis, D. (1992). Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat, 1(4), 271–279. https://doi.org/10.1002/humu.1380010402
Tanaka, K., I. Yokota, P. M. Coates, A. W. Strauss, D. P. Kelly, Z. Zhang, N. Gregersen, B. S. Andresen, Y. Matsubara, and D. Curtis. “Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Hum Mutat 1, no. 4 (1992): 271–79. https://doi.org/10.1002/humu.1380010402.
Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, et al. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat. 1992;1(4):271–9.
Tanaka, K., et al. “Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Hum Mutat, vol. 1, no. 4, 1992, pp. 271–79. Pubmed, doi:10.1002/humu.1380010402.
Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat. 1992;1(4):271–279.
Journal cover image

Published In

Hum Mutat

DOI

ISSN

1059-7794

Publication Date

1992

Volume

1

Issue

4

Start / End Page

271 / 279

Location

United States

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Point Mutation
  • Molecular Sequence Data
  • Lipid Metabolism, Inborn Errors
  • Humans
  • Genetics & Heredity
  • DNA Mutational Analysis
  • DNA
  • Biological Evolution
  • Base Sequence