The epidemiology of mitochondrial disorders—past, present and future

Biochimica et Biophysica Acta (BBA) - Bioenergetics - Tập 1659 - Trang 115-120 - 2004
Andrew M. Schaefer1, Robert W. Taylor1, Douglass M. Turnbull1, Patrick F. Chinnery1
1Mitochondrial Research Group, University of Newcastle upon Tyne, UK

Tài liệu tham khảo

Anderson, 1981, Sequence and organization of the human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0 Holt, 1988, Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 331, 717, 10.1038/331717a0 Wallace, 1988, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 242, 1427, 10.1126/science.3201231 Poulton, 2002, Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study, Hum. Mol. Genet., 11, 1581, 10.1093/hmg/11.13.1581 Van Der Walt, 2003, Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease, Am. J. Hum. Genet., 72, 804, 10.1086/373937 Macmillan, 1998, Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy, Neurology, 50, 417, 10.1212/WNL.50.2.417 Skladal, 2000, Birth prevalence of mitochondrial respiratory chain defects in children, J. Inherit. Metab. Dis., 23, 138 Ciafaloni, 1992, MELAS: clinical features, biochemistry, and molecular genetics, Ann. Neurol., 31, 391, 10.1002/ana.410310408 Deschauer, 2003, A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia, Neuromuscul. Disord., 13, 568, 10.1016/S0960-8966(03)00071-3 Estivill, 1998, Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides, Am. J. Hum. Genet., 62, 27, 10.1086/301676 Bogousslavsky, 1987, Ischaemic stroke in adults younger than 30 years of age, Arch. Neurol., 44, 479, 10.1001/archneur.1987.00520170009012 Newkirk, 1997, Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population, Diabet. Med., 14, 457, 10.1002/(SICI)1096-9136(199706)14:6<457::AID-DIA372>3.0.CO;2-W Kadowaki, 1994, A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA, N. Engl. J. Med., 330, 962, 10.1056/NEJM199404073301403 Chinnery, 2001, The epidemiology and treatment of mitochondrial disease, Am. J. Med. Genet., 106, 94, 10.1002/ajmg.1426 Majamaa, 1998, Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population, Am. J. Hum. Genet., 63, 447, 10.1086/301959 Chinnery, 2000, Epidemiology of pathogenic mitochondrial DNA mutations, Ann. Neurol., 48, 188, 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P Man, 2003, The epidemiology of leber hereditary optic neuropathy in the north East of England, Am. J. Hum. Genet., 72, 333, 10.1086/346066 Taylor, 2003, Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy, J. Med. Genet., 40, e85, 10.1136/jmg.40.7.e85 He, 2002, Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR, Nucleic Acids Res., 30, e68, 10.1093/nar/gnf067 McDonnell, 2004, Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells, Eur. J. Hum. Genet., 12, 778, 10.1038/sj.ejhg.5201216 Darin, 2001, The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities, Ann. Neurol., 49, 377, 10.1002/ana.75 Skladal, 2003, Minimum birth prevalence of mitochondrial respiratory chain disorders in children, Brain, 126, 1905, 10.1093/brain/awg170 Remes, 2003, Epidemiology of the mitochondrial DNA 8344A(G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome, J. Neurol. Neurosurg. Psychaitry, 74, 1158, 10.1136/jnnp.74.8.1158 Macmillan, 2000, Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect, Am. J. Hum. Genet., 66, 332, 10.1086/302716 Man, 2004, Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees, J. Med. Genet., 41, e41, 10.1136/jmg.2003.011247 Howell, 1994, Primary LHON mutations: trying to separate “fruyt” from “chaf”, Clin. Neurosci., 2, 130 Pulkes, 2000, Increased risk of stroke in patients with the A12308G polymorphism in mitochondria, Lancet, 356, 2068, 10.1016/S0140-6736(00)03408-5 Deschauer, 2004, No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation, J. Neurol. Neurosurg. Psychaitry, 75, 1204, 10.1136/jnnp.2003.026278 Torroni, 2003, Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation, Am. J. Hum. Genet., 72, 1005, 10.1086/373936 Carelli, 2003, Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear–mitochondrial interaction, Trends Genet., 19, 257, 10.1016/S0168-9525(03)00072-6 Fischel-Ghodsian, 1998, Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics, Am. J. Hum. Genet., 62, 15, 10.1086/301695