Клинико-генетический анализ наследственных аксонопатий, обусловленных нарушением формирования хондриома
Диссертация
Нами проведен клинический анализ основных неврологических симптомов в группах больных с мутациями генов MFN2 и GDAP1, обнаруженные статистически достоверные отличия по частотам таких признаков, как снижение/отсутствие коленного рефлекса и рефлекса с двуглавой мышцы, тремор пальцев, деформация кисти, расстройство глубокой чувствительности и возрасту манифестации, позволяют оптимизировать… Читать ещё >
Список литературы
- Бадалян, JI.O., Скворцов, И.А., Клиническая электро-нейромиография//. 1986, Москва: Медицина. 368.
- Гехт, Б.М., Ильина Н. А., Нервно-мышечные болезни//, ed. «Медицина». 1982, Москва.
- Гехт, Б.М., Меркулова, Д.М., Практические аспекты клиники и лечения полиневропатий.//Неврологический журнал, — 1997-. 2-(4−9.
- Гехт, Б.М., Меркулова, Д.М., Касаткина Л. Ф., Клиника, диагностика и лечение демиелинизирующих полиневропатий.// Неврологический журнал, — 1996-. 1-(12−17.
- Горбунова, В.Н., Савельева-Васильева, Красильникова В.В., Молекулярная неврология//. 2000, Санкт-Петербург: Интермедика.
- Гринберг, Д.А., Аминофф, М.Д., Саймон, Р.П., Клиническая неврология//. 2004, Москва: Медпресс-информ. 520.
- Дадали, Е.Л., Наследственные нервно-мышечные заболевания: диагностика и медико-генетическое консультирование. 1999: Москва.
- Дадали, Е.Л., Угаров И. В., Шаркова И. В., Кириленко Н. Б., Проблемы классификации наследственных нейропатий.// Медицинская генетика,-2003-. 5-(194−200.
- Левин, О.С., Полиневропатии//. 2005, Москва: Медицинское информационное агенство. 496.
- Ю.Петрунин, А.С., Неврология детского возраста//. 2004, Москва: Медицина. 645.
- И.Поляков, В.Ю., Сухомлинова, М.Ю., Файс, Д., Как сливаются, фрагментируются и делятся митохондрии.// Биохимия, — 2003-. том 68, вып.8-(1026−1039.
- Скулачев, В.П., Биоэнергетика. Мембранные преобразователи энергии.//. Биохимия мембран. 1989, Москва: Высшая школа. 199−208.
- З.Федотов, В.П., Клинико-генетический анализ наследственных моторно-сенсорных нейропатий в Воронежской области. 2002: Москва.
- Н.Ченцов, Ю.С., Введение в клеточную биологию//. 2004, Москва: Академкнига. 340−355.
- Штульман, О.С., Левин, О.С., Неврология. Справочник практического врача//. 2004, Москва: Медпресс-информ. 860.
- Эсбери, А.К., Джиллиатт, Р.У., Заболевания периферической нервной системы//. 1987, Москва: Медицина. 352.
- Яхно, Н.Н., Штульман Д. Р., Болезни нервной системы//. 2 ed. 2001, Москва: Медицина. 569.
- Antonellis, A., R.E. Ellsworth, N. Sambuughin, et al., Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.// Am J Hum Genet, — 2003-. 72-(5)-: p. 1293−1299.
- Baloh, R.H., R.E. Schmidt, A. Pestronk, et al., Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofiisin 2 mutations.//J Neurosci, — 2007-. 27-(2)-: p. 422−430.
- Bengtsson, B.O. and G. Thomson, Measuring the strength of associations between HLA antigens and diseases.//Tissue Antigens, — 1981-. 18-(5)-: p. 356−363.
- Bergoffen, J., S.S. Scherer, S. Wang, et al., Connexin mutations in X-linked Charcot-Marie-Tooth disease.//Science, — 1993-. 262-(5142)-: p. 2039−2042.
- Birouk, N., H. Azzedine, O. Dubourg, et al., Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.// Arch Neurol,-2003-. 60-(4)-: p. 598−604.
- Bolino, A., M. Muglia, F.L. Conforti, et al., Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.// Nat Genet, — 2000-. 25-(l)-: p. 17−19.
- Chen, H., S.A. Detmer, A.J. Ewald, et al., Mitofusins Mfnl and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.//J Cell Biol, — 2003-. 160-(2)-: p. 189−200.
- Cho, H.J., D. Sung, B. Kim, et al., Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.// Clin Genet, — 2007-. 71-(3)-: p. 267−272.
- Chung, K.W., S.B. Kim, K.D. Park, et al., Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.// Brain, — 2006-. 129-(Pt 8)-: p. 2103−2118.
- Cipolat, S., O. Martins de Brito, B. Dal Zilio, et al., OPA1 requires mitofusin 1 to promote mitochondrial fusion.// Proc Natl Acad Sci U S А,-2004-. 101-(45)-:p. 15 927−15 932.
- Claramunt, R., L. Pedrola, T. Sevilla, et al., Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.//J Med Genet, — 2005-. 42-(4)-: p. 358−365.
- Cuesta, A., L. Pedrola, T. Sevilla, et al., The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.//Nat Genet, — 2002-. 30-(l)-: p. 22−25.
- De Jonghe, P., I. Mersivanova, E. Nelis, et al., Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.//Ann Neurol, — 2001-. 49-(2)-: p. 245−249.
- De Jonghe, P., V. Timmerman, E. Nelis, et al., Charcot-Marie-Tooth disease and related peripheral neuropathies.//J Peripher Nerv Syst, — 1997-. 2-(4)-: p. 370−387.
- De Sandre-Giovannoli, A., M. Chaouch, I. Boccaccio, et al., Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.// J Med Genet, — 2003-. 40-(7)-: p. e87.
- Devlin, B. and N. Risch, A comparison of linkage disequilibrium measures for fine-scale mapping.//Genomics, — 1995-. 29-(2)-: p. 311−322.
- Dyck, P.J. and E.H. Lambert, Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.// Arch Neurol, — 1968-. 18-(6)-: p. 619−625.
- Engelfried, К., M. Vorgerd, M. Hagedorn, et al., Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).// BMC Med Genet, — 2006-. 7-(53.
- Eura, Y., N. Ishihara, S. Yokota, et al., Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion.//J Biochem (Tokyo), — 2003-. 134-(3)-: p. 333−344.
- Evgrafov, O.V., I. Mersiyanova, J. Irobi, et al., Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.//Nat Genet, — 2004-. 36-(6)-: p. 602−606.
- Fabrizi, G.M., T. Cavallaro, C. Angiari, et al., Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.//Brain, — 2007-. 130-(Pt 2)-: p. 394 403.
- Fischer, D., M. Herasse, M. Bitoun, et al., Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.// Brain, — 2006-. 129-(Pt 6)-: p. 1463−1469.
- Georgiou, D.M., J. Zidar, M. Korosec, et al., A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.// Neurogenetics, — 2002-. 4-(2)-: p. 93−96.
- Gross, A., J.M. McDonnel, and S.J. Korsmeyer, BCL-2 family members and the mitochondria in apoptosis.// Genes & Development, — 1999-. 13-(1899−1911.
- Harding, A.E. and P.K. Thomas, Genetic aspects of hereditary motor and sensory neuropathy (types I and II).//J Med Genet, — 1980-. 17-(5)-: p. 329 336.
- Helgason, A., G. Nicholson, K. Stefansson, et al., A reassessment of genetic diversity in Icelanders: strong evidence from multiple loci for relative homogeneity caused by genetic drift.// Ann Hum Genet, — 2003-. 67-(Pt 4)-: p. 281−297.
- Ismailov, S.M., V.P. Fedotov, E.L. Dadali, et al., A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q 11-q21.//Eur J Hum Genet, — 2001-. 9-(8)-: p. 646−650.
- Jordanova, A., J. Irobi, F.P. Thomas, et al., Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.//Nat Genet, — 2006-. 38-(2)-: p. 197−202.
- Kabzinska, D., H. Drac, K. Rowinska-Marcinska, et al., Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.//Acta Myol, — 2006-. 25-(l)-: p. 34−37.
- Kijima, К., С. Numakura, Н. Izumino, et al., Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.// Hum Genet, — 2005-. 116-(l-2)-: p. 23−27.
- Kijima, К., C. Numakura, E. Shirahata, et al., Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.// J Hum Genet, — 2004-. 49-(7)-: p. 376−379.
- Koshiba, Т., S.A. Detmer, J.T. Kaiser, et al., Structural basis of mitochondrial tethering by mitofusin complexes.// Science, — 2004-. 305-(5685)-: p. 858−862.
- Labuda, D., E. Zietkiewicz, and M. Labuda, The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim.//Am J Hum Genet, — 1997-. 61-(3>: p. 768−771.
- Lawson, V.H., B.V. Graham, and K.M. Flanigan, Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.//Neurology, — 2005-. 65-(2)-: p. 197−204.
- Lee, Y.J., S.Y. Jeong, M. Karbowski, et al., Roles of the mammalian mitochonrial fission and fusion mediators Fisl, Drpl, and Opal in apoptosis//Mol Biol Cell, — 2004-.
- Levin, M.L. and R. Bertell, RE: «simple estimation of population attributable risk from case-control studies».// Am J Epidemiol, — 1978-. 108-(l)-:p. 78−79.
- Lupski, J.R., Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L).//Am J Hum Genet, — 2000-. 67-(l)-: p. 8−10.
- Marco, A., A. Cuesta, L. Pedrola, et al., Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.//Mol Biol Evol, — 2004-. 21-(1)-: p. 176−187.
- Matise, T.C., A. Chakravarti, P.l. Patel, et al., Detection of tandem duplications and implications for linkage analysis.// Am J Hum Genet,-1994-. 54-(6)-:p. 1110−1121.
- Mersiyanova, I.V., A.V. Perepelov, A.V. Polyakov, et al., A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.// Am J Hum Genet, — 2000-. 67-(l)-: p. 37−46.
- Mozdy, A.D., J.M. McCaffery, and J.M. Shaw, Dnmlp GTPase-mediated mitochondrial fission is a multi-step process requiring the novel integral membrane component Fislp.//J Cell Biol, — 2000-. 151-(2)-: p. 367−380.
- Mozdy, A.D. and J.M. Shaw, A fuzzy mitochondrial fusion apparatus comes into focus.//Nat Rev Mol Cell Biol, — 2003-. 4-(6)-: p. 468−478.
- Nelis, E., S. Erdem, P.Y. Van Den Bergh, et al., Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.// Neurology, — 2002-. 59-(12)-: p. 1865−1872.
- Nelis, E., K. Verhoeven, K. Claeys, et al. Mitofusin 2 mutations in Chrcot-Marie-Tooth type 2A neuropathy//. Mutation detection VIII International symposium on mutation in the genome. 2005. Santorini, Greece.
- Nicholson, G. and S. Myers, Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.//Neuromolecular Med, — 2006-. 8-(l-2)-: p. 123−130.
- Parman, Y., E. Battaloglu, I. Baris, et al., Clinicopathological and genetic study of early-onset demyelinating neuropathy.// Brain, — 2004-. 127-(Pt 11)-: p. 2540−2550.
- Pedrola, L., A. Espert, X. Wu, et al., GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria//Hum Mol Genet, — 2005-. 14-(8)-:p. 1087−1094.
- Reilly, M.M. and M.G. Hanna, Genetic neuromuscular disease.// J Neurol Neurosurg Psychiatry, — 2002-. 73 Suppl 2-(II 12−21.
- Risch, N., D. de Leon, L. Ozelius, et al., Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.//Nat Genet, — 1995-. 9-(2)-: p. 152−159.
- Roa, B.B., L.E. Warner, C.A. Garcia, et al., Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.// Hum Mutat, — 1996-. 7-(l)-: p. 36−45.
- Saito, M., Y. Hayashi, T. Suzuki, et al., Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome lp (CMT2A) and the clinical features of CMT2A.//Neurology, — 1997-. 49-(6)-: p. 1630−1635.
- Sanger, F., S. Nicklen, and A.R. Coulson, DNA sequencing with chain-terminating inhibitors.// Proc Natl Acad Sci U S А, — 1977-. 74-(12)-: p. 5463−5467.
- Santel, A., Get the balance right: mitofusins roles in health and disease.// Biochim Biophys Acta, — 2006-. 1763-(5−6)-: p. 490−499.
- Santel, A. and M.T. Fuller, Control of mitochondrial morphology by a human mitofusin.//J Cell Sci, — 2001-. 114-(Pt 5)-: p. 867−874.
- Schessl, J., L. Medne, Y. Hu, et al., MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.//Neuromuscul Disord, — 2007-. 17-(1)-: p. 28−32.
- Schon, E.A. and G. Manfredi, Neuronal degeneration and mitochondrial dysfunction.//J Clin Invest, — 2003-. 111-(3)-: p. 303−312.
- Senderek, J., C. Bergmann, S. Weber, et al., Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/llpl5.// Hum Mol Genet, — 2003-. 12-(3)-: p. 349−356.
- Shield, A.J., T.P. Murray, and P.G. Board, Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.//Biochem Biophys Res Commun, — 2006-. 347-(4)-: p. 859−866.
- Skre, H., Genetic and clinical aspects of Charcot-Marie-Tooth's disease.// Clin Genet, — 1974-. 6-(2)-: p. 98−118.
- Street, V.A., C.L. Bennett, J.D. Goldy, et al., Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1С.// Neurology, — 2003-. 60-(l)-: p. 22−26.
- Sugioca, R., S. Shimizu, and Y. Tsujimoto, Fzol, a protein involved in mitochondrial fusion, inhibits apoptosis.// J. Biol. Chem., — 2004-. 279-(50)-:1. P
- Sun, X., J.M. Fontaine, J.S. Rest, et al., Interaction of human HSP22 (HSPB8) with other small heat shock proteins.// J Biol Chem, — 2004-. 279-(4)-: p. 2394−2402.
- Vallat, J.M., D. Grid, C. Magdelaine, et al., Autosomal recessive forms of Charcot-Marie-Tooth disease.// Curr Neurol Neurosci Rep, — 2004-. 4-(5)-: p. 413−419.
- Vander Heiden, M.J. and G.B. Thompson, BCL-2 proteins: regulators of apoptosis or of mitochondrial homeostasis?//Naure Cell Biology, — 1999-. 1-(
- Verhoeven, K. and e. al., Mutations in the small GTF-ase lete endosomal protein RAB7 cause Charcot-Marie-Tooth Type 2B neuropathy.// Am J Hum Genet, — 2003-. 72(3)-(722−727.
- Verhoeven, K., K.G. Claeys, S. Zuchner, et al., MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.// Brain, — 2006-. 129-(Pt 8)-: p. 2093−2102.
- Warner, L.E., P. Mancias, I.J. Butler, et al., Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.//Nat Genet, — 1998-. 18-(4)-: p. 382−384.
- Zhao, C., J. Takita, Y. Tanaka, et al., Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIFlBbetaA Cell, — 2001-. 105-(5)-: p. 587−597.
- Zuchner, S., P. De Jonghe, A. Jordanova, et al., Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.// Ann Neurol, — 2006-. 59-(2)-:p. 276−281.
- Zuchner, S., I.V. Mersiyanova, M. Muglia, et al., Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.//Nat Genet, — 2004-. 36-(5)-: p. 449−451.
- Zuchner, S., M. Noureddine, K. M.L., et al., Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease//Nat Genet, — 2005-. 37:3-(289−294.