Role of adenine nucleotide translocator 1 in mtDNA maintenance

Jyrki Kaukonen, Jukka Juselius, Valeria Tiranti, Aija Kyttälä, Massimo Zeviani, Giacomo Comi, Sirkka Keränen, Leena Peltonen, Anu Suomalainen

Research output: Contribution to journalArticleScientificpeer-review

539 Citations (Scopus)


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
Issue number5480
Publication statusPublished - 2000
MoE publication typeA1 Journal article-refereed


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