Mutations inSDHDlead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Journal of Medical Genetics - Tập 51 Số 3 - Trang 170-175 - 2014
Christopher B. Jackson1,2, Jean‐Marc Nuoffer3, Dagmar Hahn3, Holger Prokisch4,5, Birgit Haberberger4, Matthias Gautschi3,2, Annemarie Häberli3, Sabina Gallati2, André Schaller2
1Graduate School for Cellular and Biomedical Sciences, University of Bern
2University of Bern
3Institute of Clinical Chemistry, University Hospital Bern
4Institute of Human Genetics, Helmholtz Zentrum München
5Institute of Human Genetics, Technische Universität München

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Schapira, 2012, Mitochondrial diseases, Lancet, 379, 1825, 10.1016/S0140-6736(11)61305-6

Sun, 2005, Crystal structure of mitochondrial respiratory membrane protein complex II, Cell, 121, 1043, 10.1016/j.cell.2005.05.025

Hagerhall, 1997, Succinate: quinone oxidoreductases. Variations on a conserved theme, Biochim Biophys Acta, 1320, 107, 10.1016/S0005-2728(97)00019-4

Yankovskaya, 2003, Architecture of succinate dehydrogenase and reactive oxygen species generation, Science, 299, 700, 10.1126/science.1079605

Ghezzi, 2009, SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy, Nat Genet, 41, 654, 10.1038/ng.378

Hao, 2009, SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma, Science, 325, 1139, 10.1126/science.1175689

Parfait, 2000, Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome, Hum Genet, 106, 236, 10.1007/s004390051033

Birch-Machin, 2000, Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene, Ann Neurol, 48, 330, 10.1002/1531-8249(200009)48:3<330::AID-ANA7>3.0.CO;2-A

Levitas, 2010, Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase, Eur J Hum Genet, 18, 1160, 10.1038/ejhg.2010.83

Astuti, 2001, Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma, Am J Hum Genet, 69, 49, 10.1086/321282

Niemann, 2000, Mutations in SDHC cause autosomal dominant paraganglioma, type 3, Nat Genet, 26, 268, 10.1038/81551

Baysal, 2000, Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, Science, 287, 848, 10.1126/science.287.5454.848

Alston, 2012, Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency, J Med Genet, 49, 569, 10.1136/jmedgenet-2012-101146

Schaller, 2011, Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome, BMC Neurol, 11, 4, 10.1186/1471-2377-11-4

Shepherd, 1969, The kinetic properties of citrate synthase from rat liver mitochondria, Biochem J, 114, 597, 10.1042/bj1140597

Birch-Machin, 2001, Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues, Methods Cell Biol, 65, 97, 10.1016/S0091-679X(01)65006-4

Liechti-Gallati, 1999, Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease, Eur J Hum Genet, 7, 590, 10.1038/sj.ejhg.5200338

Schagger, 2001, Blue-native gels to isolate protein complexes from mitochondria, Methods Cell Biol, 65, 231, 10.1016/S0091-679X(01)65014-3

Danhauser, 2011, Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency, Mol Genet Metab, 103, 161, 10.1016/j.ymgme.2011.03.004

Gerards, 2011, Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene, Brain, 134, 210, 10.1093/brain/awq273

Hirsch, 2012, Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain, Endocrinology, 153, 4354, 10.1210/en.2012-1145

Vladutiu, 2000, Succinate dehydrogenase deficiency, Arch Pathol Lab Med, 124, 1755, 10.5858/2000-124-1755-SDD

Scaglia, 2004, Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease, Pediatrics, 114, 925, 10.1542/peds.2004-0718

Jain-Ghai, 2013, Complex II deficiency--a case report and review of the literature, Am J Med Genet A, 161A, 285, 10.1002/ajmg.a.35714

Horvath, 2006, Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA), J Neurol Neurosurg Psychiatry, 77, 74, 10.1136/jnnp.2005.067041

Levitas, 2010, Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase, Eur J Hum Genet, 18, 1160, 10.1038/ejhg.2010.83

Bardella, 2011, SDH mutations in cancer, Biochim Biophys Acta, 1807, 1432, 10.1016/j.bbabio.2011.07.003

Burnichon, 2010, SDHA is a tumor suppressor gene causing paraganglioma, Hum Mol Genet, 19, 3011, 10.1093/hmg/ddq206