Abstract
Background. Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. Results. Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. Conclusions. Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.
Original language | English |
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Pages (from-to) | 16-23 |
Number of pages | 8 |
Journal | Acta Myologica |
Volume | 28 |
Issue number | 1 |
Publication status | Published - 2009 |
Keywords
- Ataxia
- Optic atrophy
- SURF1
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine