Role of adenine nucleotide translocator 1 in mtDNA maintenance

J. Kaukonen, J. K. Juselius, V. Tiranti, A. Kyttala, M. Zeviani, G. P. Comi, S. Keranen, L. Peltonen, A. Suomalainen

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)782-785
Number of pages4
JournalScience
Volume289
Issue number5480
DOIs
Publication statusPublished - Aug 4 2000

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'Role of adenine nucleotide translocator 1 in mtDNA maintenance'. Together they form a unique fingerprint.

Cite this