Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance-Reference-Cited by-同舟云学术

Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

Published:2000-08-04 Issue:5480 Volume:289 Page:782-785
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Kaukonen Jyrki¹,Juselius Jukka K.²,Tiranti Valeria³,Kyttälä Aija¹,Zeviani Massimo³,Comi Giacomo P.⁴,Keränen Sirkka²,Peltonen Leena¹⁵,Suomalainen Anu¹

Affiliation:

1. National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.

2. VTT Biotechnology, Espoo, Finland.

3. Division of Biochemistry and Genetics, Department of Neurological Research, National Neurological Institute “C. Besta,” Milan, Italy.

4. 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.

5. Department of Human Genetics, University of California School of Medicine, Los Angeles, CA 10095–7088, USA.

Abstract

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 ( ANT1 ) 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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