Report

Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

See allHide authors and affiliations

Science  04 Aug 2000:
Vol. 289, Issue 5480, pp. 782-785
DOI: 10.1126/science.289.5480.782

You are currently viewing the abstract.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution

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.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: anu{at}ericpc.mni.mcgill.ca

View Full Text