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.
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.
Authors: L C Papadopoulou; C M Sue; M M Davidson; K Tanji; I Nishino; J E Sadlock; S Krishna; W Walker; J Selby; D M Glerum; R V Coster; G Lyon; E Scalais; R Lebel; P Kaplan; S Shanske; D C De Vivo; E Bonilla; M Hirano; S DiMauro; E A Schon Journal: Nat Genet Date: 1999-11 Impact factor: 38.330
Authors: D Astuti; F Latif; A Dallol; P L Dahia; F Douglas; E George; F Sköldberg; E S Husebye; C Eng; E R Maher Journal: Am J Hum Genet Date: 2001-06-12 Impact factor: 11.025
Authors: M O Péquignot; R Dey; M Zeviani; V Tiranti; C Godinot; A Poyau; C Sue; S Di Mauro; M Abitbol; C Marsac Journal: Hum Mutat Date: 2001-05 Impact factor: 4.878
Authors: M Jaksch; R Horvath; N Horn; D P Auer; C Macmillan; J Peters; K D Gerbitz; I Kraegeloh-Mann; A Muntau; V Karcagi; R Kalmanchey; H Lochmuller; E A Shoubridge; P Freisinger Journal: Neurology Date: 2001-10-23 Impact factor: 9.910
Authors: C Delettre; G Lenaers; J M Griffoin; N Gigarel; C Lorenzo; P Belenguer; L Pelloquin; J Grosgeorge; C Turc-Carel; E Perret; C Astarie-Dequeker; L Lasquellec; B Arnaud; B Ducommun; J Kaplan; C P Hamel Journal: Nat Genet Date: 2000-10 Impact factor: 38.330
Authors: H Puccio; D Simon; M Cossée; P Criqui-Filipe; F Tiziano; J Melki; C Hindelang; R Matyas; P Rustin; M Koenig Journal: Nat Genet Date: 2001-02 Impact factor: 38.330
Authors: J N Spelbrink; F Y Li; V Tiranti; K Nikali; Q P Yuan; M Tariq; S Wanrooij; N Garrido; G Comi; L Morandi; L Santoro; A Toscano; G M Fabrizi; H Somer; R Croxen; D Beeson; J Poulton; A Suomalainen; H T Jacobs; M Zeviani; C Larsson Journal: Nat Genet Date: 2001-07 Impact factor: 38.330
Authors: Rhys A Farrer; Kerstin Voelz; Daniel A Henk; Simon A Johnston; Matthew C Fisher; Robin C May; Christina A Cuomo Journal: Philos Trans R Soc Lond B Biol Sci Date: 2016-12-05 Impact factor: 6.237