Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency - PubMed (original) (raw)
Case Reports
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
T Bourgeron et al. Nat Genet. 1995 Oct.
Abstract
We now report a mutation in the nuclear-encoded flavoprotein (Fp) subunit gene of the succinate dehydrogenase (SDH) in two siblings with complex II deficiency presenting as Leigh syndrome. Both patients were homozygous for an Arg554Trp substitution in the Fp subunit. Their parents (first cousins) were heterozygous for the mutation that occurred in a conserved domain of the protein and was absent from 120 controls. The deleterious effect of the Arg to Trp substitution on the catalytic activity of SDH was observed in a SDH- yeast strain transformed with mutant Fp cDNA. The Fp subunit gene is duplicated in the human genome (3q29; 5p15), with only the gene on chromosome 5 expressed in human-hamster somatic cell hybrids. This is the first report of a nuclear gene mutation causing a mitochondrial respiratory chain deficiency in humans.
Similar articles
- Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.
Taylor RW, Birch-Machin MA, Schaefer J, Taylor L, Shakir R, Ackrell BA, Cochran B, Bindoff LA, Jackson MJ, Griffiths P, Turnbull DM. Taylor RW, et al. Ann Neurol. 1996 Feb;39(2):224-32. doi: 10.1002/ana.410390212. Ann Neurol. 1996. PMID: 8967754 - Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A. Birch-Machin MA, et al. Biochem Biophys Res Commun. 1996 Mar 7;220(1):57-62. doi: 10.1006/bbrc.1996.0356. Biochem Biophys Res Commun. 1996. PMID: 8602857 - Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Parfait B, Chretien D, Rötig A, Marsac C, Munnich A, Rustin P. Parfait B, et al. Hum Genet. 2000 Feb;106(2):236-43. doi: 10.1007/s004390051033. Hum Genet. 2000. PMID: 10746566 - [Complex II deficiency due to Fp gene mutation].
Ito M. Ito M. Nihon Rinsho. 2002 Apr;60 Suppl 4:444-5. Nihon Rinsho. 2002. PMID: 12013908 Review. Japanese. No abstract available. - [Complex II (succinate-ubiquinone reductase) deficiency].
Nonaka I. Nonaka I. Ryoikibetsu Shokogun Shirizu. 2001;(36):132-4. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596343 Review. Japanese. No abstract available.
Cited by
- Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.
Lasserre JP, Dautant A, Aiyar RS, Kucharczyk R, Glatigny A, Tribouillard-Tanvier D, Rytka J, Blondel M, Skoczen N, Reynier P, Pitayu L, Rötig A, Delahodde A, Steinmetz LM, Dujardin G, Procaccio V, di Rago JP. Lasserre JP, et al. Dis Model Mech. 2015 Jun;8(6):509-26. doi: 10.1242/dmm.020438. Dis Model Mech. 2015. PMID: 26035862 Free PMC article. Review. - Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Spiegel R, et al. Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009. Am J Hum Genet. 2012. PMID: 22405087 Free PMC article. - Differential susceptibility of mitochondrial complex II to inhibition by oxaloacetate in brain and heart.
Stepanova A, Shurubor Y, Valsecchi F, Manfredi G, Galkin A. Stepanova A, et al. Biochim Biophys Acta. 2016 Sep;1857(9):1561-1568. doi: 10.1016/j.bbabio.2016.06.002. Epub 2016 Jun 7. Biochim Biophys Acta. 2016. PMID: 27287543 Free PMC article. - Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.
Baysal BE, Lawrence EC, Ferrell RE. Baysal BE, et al. BMC Biol. 2007 Mar 21;5:12. doi: 10.1186/1741-7007-5-12. BMC Biol. 2007. PMID: 17376234 Free PMC article. - Development of a gene cloning and inactivation system for halorespiring Desulfitobacterium dehalogenans.
Smidt H, van der Oost J, de Vos WM. Smidt H, et al. Appl Environ Microbiol. 2001 Feb;67(2):591-7. doi: 10.1128/AEM.67.2.591-597.2001. Appl Environ Microbiol. 2001. PMID: 11157221 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases