Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Journal of the Neurological Sciences - Tập 308 - Trang 173-176 - 2011
Dario Ronchi1, Elisa Fassone1, Andreina Bordoni1, Monica Sciacco1, Valeria Lucchini1, Alessio Di Fonzo1, Mafalda Rizzuti1, Irene Colombo1, Laura Napoli1, Patrizia Ciscato1, Maurizio Moggio1, Alessandra Cosi1, Martina Collotta1, Stefania Corti1,2, Nereo Bresolin1,2,3, Giacomo P. Comi1,2
1Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
2Centre of Excellence on Neurodegenerative Diseases, University of Milan, Milan, Italy
3IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy

Tài liệu tham khảo

Horvath, 2006, Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene, Brain, 129, 1674, 10.1093/brain/awl088 Longley, 2006, Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia, Am J Hum Genet, 78, 1026, 10.1086/504303 Kaukonen, 2000, Role of adenine nucleotide translocator 1 in mtDNA maintenance, Science, 289, 782, 10.1126/science.289.5480.782 Spelbrink, 2001, Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria, Nat Genet, 28, 223, 10.1038/90058 Nishino, 1999, Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 283, 689, 10.1126/science.283.5402.689 Hudson, 2008, Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance, Brain, 131, 329, 10.1093/brain/awm272 Amati-Bonneau, 2008, OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes, Brain, 131, 338, 10.1093/brain/awm298 Tyynismaa, 2009, A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions, Am J Hum Genet, 85, 290, 10.1016/j.ajhg.2009.07.009 Nikali, 2005, Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky, Hum Mol Genet, 14, 2981, 10.1093/hmg/ddi328 Hakonen, 2007, Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion, Brain, 130, 3032, 10.1093/brain/awm242 Sarzi, 2007, Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion, Ann Neurol, 62, 579, 10.1002/ana.21207 Lewis, 2002, Clinical and molecular features of adPEO due to mutations in the Twinkle gene, J Neurol Sci, 201, 39, 10.1016/S0022-510X(02)00190-9 Virgilio, 2008, Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia, J Neurol, 255, 1384, 10.1007/s00415-008-0926-3 Sciacco, 2001, Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation, J Neurol, 248, 778, 10.1007/s004150170094 Moraes, 2003, Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations, J Mol Diagn, 5, 197, 10.1016/S1525-1578(10)60474-6 Wanrooij, 2010, The human mitochondrial replication fork in health and disease, Biochim Biophys Acta, 1797, 1378, 10.1016/j.bbabio.2010.04.015 Rötig, 2009, Genetic causes of mitochondrial DNA depletion in humans, Biochim Biophys Acta, 1792, 1103, 10.1016/j.bbadis.2009.06.009 Fratter, 2010, The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO, Neurology, 74, 1619, 10.1212/WNL.0b013e3181df099f Martin-Negrier, 2010, TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review, Eur J Neurol Matsushima, 2008, Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase, J Biol Chem, 283, 23964, 10.1074/jbc.M803674200