An autosomal locus predisposing to deletions of mitochondrial DNA

A. Suomalainen, J. Kaukonen, P. Amati, R. Timonen, M. Haltia, J. Weissenbach, M. Zeviani, H. Somer, L. Peltonen

Research output: Contribution to journalArticlepeer-review


The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross- talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. The assignment of this disease locus to 10q 23.3-24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder.

Original languageEnglish
Pages (from-to)146-151
Number of pages6
JournalNature Genetics
Issue number2
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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