Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
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- 4 August 2000
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 289 (5480) , 782-785
- https://doi.org/10.1126/science.289.5480.782
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.Keywords
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