title: Recent advances in the genetics of mitochondrial encephalopathies.
abstract: Mitochondrial encephalopathy, the most common neurometabolic disorder, may be caused by mutations in approximately 100 different genes and may present with various symptoms, such as seizures, ataxia, myopathy, cognitive impairment, blindness, and stroke. Fewer than 50% of patients with mitochondrial encephalopathy receive a molecular diagnosis, primarily because of the large degree of clinical and genetic heterogeneity among patients and the limited knowledge of the genes involved in mitochondrial function. Here we review the most recent discoveries of genes associated with mitochondrial disease with variable neuropathology. All these genes have been identified via homozygosity mapping or linkage analysis; however, advances in sequencing technology indicate that the future of genetic diagnosis and disease gene discovery likely lies in high-throughput sequencing.
authors.affiliation: Murdoch Childrens Research Institute, The Royal Children's Hospital, 10th Floor, Flemington Road, Parkville, Victoria, 3052, Australia. e.tucker3@pgrad.unimelb.edu.au
authors.forename: Elena J
authors.initials: EJ
authors.lastname: Tucker
authors.forename: Alison G
authors.initials: AG
authors.lastname: Compton
authors.forename: David R
authors.initials: DR
authors.lastname: Thorburn
mesh_terms: D050259:Genes, Mitochondrial; D005838:Genotype; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D010085:Oxidative Phosphorylation; D010641:Phenotype
chemical_list: D024101:Mitochondrial Proteins
references.citation: Nat Genet. 2009 May;41(5):510-2
references.pmid: 19399033
references.citation: Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101
references.pmid: 19861545
references.citation: J Inherit Metab Dis. 2004;27(3):349-62
references.pmid: 15190193
references.citation: Nat Genet. 2009 Jun;41(6):654-6
references.pmid: 19465911
references.citation: Eur J Hum Genet. 2007 Jul;15(7):779-83
references.pmid: 17426723
references.citation: Nat Genet. 2006 May;38(5):576-82
references.pmid: 16582907
references.citation: Nat Genet. 2009 Jul;41(7):833-7
references.pmid: 19503089
references.citation: Nature. 1988 Feb 25;331(6158):717-9
references.pmid: 2830540
references.citation: J Med Genet. 2010 Aug;47(8):507-12
references.pmid: 19542079
references.citation: Am J Hum Genet. 2008 Aug;83(2):254-60
references.pmid: 18674747
references.citation: Biochim Biophys Acta. 2009 May;1787(5):529-32
references.pmid: 19103153
references.citation: Am J Hum Genet. 2008 May;82(5):1211-6
references.pmid: 18439546
references.citation: Nat Med. 2009 Feb;15(2):200-5
references.pmid: 19136963
references.citation: N Engl J Med. 2009 Feb 5;360(6):642-4
references.pmid: 19196685
references.citation: Am J Med Genet. 2001 Spring;106(1):18-26
references.pmid: 11579421
references.citation: N Engl J Med. 2009 Feb 5;360(6):640-2
references.pmid: 19196684
references.citation: Science. 2009 Aug 28;325(5944):1139-42
references.pmid: 19628817
references.citation: Nat Rev Genet. 2010 Jan;11(1):31-46
references.pmid: 19997069
references.citation: Cell Metab. 2006 Jan;3(1):9-13
references.pmid: 16399500
references.citation: J Med Genet. 2003 Dec;40(12):896-9
references.pmid: 14684687
references.citation: Am J Hum Genet. 2009 Mar;84(3):412-7
references.pmid: 19268275
references.citation: Brain. 2003 Aug;126(Pt 8):1905-12
references.pmid: 12805096
references.citation: Am J Hum Genet. 2009 Jun;84(6):718-27
references.pmid: 19463981
references.citation: Am J Hum Genet. 2008 Oct;83(4):468-78
references.pmid: 18940309
references.citation: Am J Hum Genet. 2008 Jun;82(6):1306-15
references.pmid: 18513682
references.citation: Nat Genet. 2009 May;41(5):535-43
references.pmid: 19377476
references.citation: Brain. 2009 Jan;132(Pt 1):136-46
references.pmid: 19015156
references.citation: Am J Hum Genet. 2008 Sep;83(3):415-23
references.pmid: 18771761
references.citation: Am J Hum Genet. 2008 Jun;82(6):1281-9
references.pmid: 18499082
references.citation: Am J Hum Genet. 2009 Sep;85(3):401-7
references.pmid: 19732863
references.citation: Science. 1988 Dec 9;242(4884):1427-30
references.pmid: 3201231
references.citation: Biochem Biophys Res Commun. 1998 Oct 29;251(3):883-7
references.pmid: 9791004
references.citation: Am J Hum Genet. 2009 May;84(5):558-66
references.pmid: 19375058
references.citation: Nat Genet. 1995 Oct;11(2):144-9
references.pmid: 7550341
references.citation: Nat Genet. 2008 Nov;40(11):1288-90
references.pmid: 18953340