Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

DOI Web Site 被引用文献11件
  • Jyrki Kaukonen
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.
  • Jukka K. Juselius
    VTT Biotechnology, Espoo, Finland.
  • Valeria Tiranti
    Division of Biochemistry and Genetics, Department of Neurological Research, National Neurological Institute “C. Besta,” Milan, Italy.
  • Aija Kyttälä
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.
  • Massimo Zeviani
    Division of Biochemistry and Genetics, Department of Neurological Research, National Neurological Institute “C. Besta,” Milan, Italy.
  • Giacomo P. Comi
    Centro Dino Ferrari, Istituto di Clinica Neurologica, Università degli Studi di Milano, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, Milan, Italy.
  • Sirkka Keränen
    VTT Biotechnology, Espoo, Finland.
  • Leena Peltonen
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.
  • Anu Suomalainen
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.

書誌事項

公開日
2000-08-04
DOI
  • 10.1126/science.289.5480.782
公開者
American Association for the Advancement of Science (AAAS)

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説明

<jats:p> Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (mtDNA) deletions. We have identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator ( <jats:italic>ANT1</jats:italic> ) in five families and one sporadic patient. The familial mutation substitutes a proline for a highly conserved alanine at position 114 in the ANT1 protein. The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism. </jats:p>

収録刊行物

  • Science

    Science 289 (5480), 782-785, 2000-08-04

    American Association for the Advancement of Science (AAAS)

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