Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press17610.17650/2222-8721-2016-6-4-21-27ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯMOLECULAR STRUCTURE OF AMYOTROPHIC LATERAL SCLEROSIS IN RUSSIAN POPULATIONМОЛЕКУЛЯРНАЯ СТРУКТУРА БОКОВОГО АМИОТРОФИЧЕСКОГО СКЛЕРОЗА В РОССИЙСКОЙ ПОПУЛЯЦИИAbramychevaN. Yu.АбрамычеваН. Ю.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

LysogorskayaE. V.ЛысогорскаяЕ. В.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

ShpilyukovaYu. S.ШпилюковаЮ. С.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

VetchinovaA. S.ВетчиноваА. С.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

ZakharovaM. N.ЗахароваМ. Н.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

IllarioshkinS. N.ИллариошкинС. Н.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

Сергей Николаевич Иллариошкин.

125367 Москва, Волоколамское шоссе, 80; snillario@gmail.com

snillario@gmail.comResearch Center of NeurologyНаучный центр неврологии040120176421270401201704012017Copyright ©; 2017, Abramycheva N.Y., Lysogorskaya E.V., Shpilyukova Y.S., Vetchinova A.S., Zakharova M.N., Illarioshkin S.N.Copyright ©; 2017, Абрамычева Н.Ю., Лысогорская Е.В., Шпилюкова Ю.С., Ветчинова А.С., Захарова М.Н., Иллариошкин С.Н.2017Abramycheva N.Y., Lysogorskaya E.V., Shpilyukova Y.S., Vetchinova A.S., Zakharova M.N., Illarioshkin S.N.Абрамычева Н.Ю., Лысогорская Е.В., Шпилюкова Ю.С., Ветчинова А.С., Захарова М.Н., Иллариошкин С.Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/176

amyotrophic lateral sclerosisgeneticsmutation screeningmolecular structureRussian populationбоковой амиотрофический склерозгенетикамутационный скринингмолекулярная структурароссийская популяцияРФФИ1. Ingre C., Roos P.M., Piehl F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol 2015;12(7):181–93. DOI: 10.2147/CLEP.S37505. PMID: 25709501.Ingre C., Roos P.M., Piehl F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol 2015;12(7):181–93. DOI: 10.2147/CLEP.S37505. PMID: 25709501.2. Kenna K.P., McLaughlin R.L., Byrne S. et al. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 2013;50(11): 776–83. DOI: 10.1136/jmedgenet-2013-101795. PMID: 23881933.Kenna K.P., McLaughlin R.L., Byrne S. et al. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 2013;50(11): 776–83. DOI: 10.1136/jmedgenet-2013-101795. PMID: 23881933.3. Renton A., Chiò A., Traynor B. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014;17(1):17–23. DOI:10.1038/nn.3584. PMID: 24369373.Renton A., Chiò A., Traynor B. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014;17(1):17–23. DOI:10.1038/nn.3584. PMID: 24369373.4. Rosen D.R., Siddique T., Patterson D. et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature 1993;362(6415):59–62. DOI: 10.1038/362059a0. PMID: 8446170.Rosen D.R., Siddique T., Patterson D. et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature 1993;362(6415):59–62. DOI: 10.1038/362059a0. PMID: 8446170.5. Kaur S.J., McKeown S.R., Rashid S. Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 2016;577(2):109–18. DOI: 10.1016/j.gene.2015.11.049. PMID: 26657039.Kaur S.J., McKeown S.R., Rashid S. Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 2016;577(2):109–18. DOI: 10.1016/j.gene.2015.11.049. PMID: 26657039.6. Corrado L., Ratti A., Gellera C. et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat 2009;30(4):688–94. DOI: 10.1002/humu.20950. PMID: 19224587.Corrado L., Ratti A., Gellera C. et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat 2009;30(4):688–94. DOI: 10.1002/humu.20950. PMID: 19224587.7. Daoud H., Valdmanis P.N., Kabashi E. et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 2009;46(2):11–4. DOI: 10.1136/jmg.2008.062463. PMID: 18931000.Daoud H., Valdmanis P.N., Kabashi E. et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 2009;46(2):11–4. DOI: 10.1136/jmg.2008.062463. PMID: 18931000.8. Liu Y., Yu J.-T., Zong Y. et al. C9orf72 mutations in neurodegenerative diseases. Mol Neurobiol 2014;49(1):386–98. DOI: 10.1007/s12035-013-8528-1. PMID: 23934648.Liu Y., Yu J.-T., Zong Y. et al. C9orf72 mutations in neurodegenerative diseases. Mol Neurobiol 2014;49(1):386–98. DOI: 10.1007/s12035-013-8528-1. PMID: 23934648.9. Gijselinck I., van Langenhove T., van der Zee J. et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11(1):54–65. DOI: 10.1016/S1474-4422(11)70261-7. PMID: 22154785.Gijselinck I., van Langenhove T., van der Zee J. et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11(1):54–65. DOI: 10.1016/S1474-4422(11)70261-7. PMID: 22154785.10. Majounie E., Renton A.E., Mok K. et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11(4):323–30. DOI: 10.1016/S1474-4422(12)70043-1. PMID: 22406228.Majounie E., Renton A.E., Mok K. et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11(4):323–30. DOI: 10.1016/S1474-4422(12)70043-1. PMID: 22406228.11. Brooks B.R., Miller R.G., Swash M. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1(5):293–9. PMID: 11464847.Brooks B.R., Miller R.G., Swash M. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1(5):293–9. PMID: 11464847.12. Warner J.P., Barron L.H., Goudie D. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996;33(12):1022–6. PMID: 9004136.Warner J.P., Barron L.H., Goudie D. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996;33(12):1022–6. PMID: 9004136.13. DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72(2):245–56. DOI: 10.1016/j.neuron.2011.09.011. PMID: 21944778.DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72(2):245–56. DOI: 10.1016/j.neuron.2011.09.011. PMID: 21944778.14. Абрамычева Н.Ю., Федотова Е.Ю., Устинова В.В., Алексеев Я.И. Секвенирование нового поколения в диагностике заболеваний, сопровождающихся расстройствами движений. Бюллетень Национального общества по изучению болезни Паркинсона и расстройств движений 2016;(2):16–23. [Abramycheva N.Yu., Fedotova E.Yu., Ustinova V.V., Alekseev Ya.I. Next generation sequencing in diagnostics of diseases accompanied by movement disorders. Bulleten’ Natsional’nogo obschestva po izucheniyu bolezni Parkinsona i rasstroystv dvizheniy = Bulletin of the Russian National Society of Parkinson’s Disease and Movement Disorders 2016;(2):16–23. (In Russ.)].Абрамычева Н.Ю., Федотова Е.Ю., Устинова В.В., Алексеев Я.И. Секвенирование нового поколения в диагностике заболеваний, сопровождающихся расстройствами движений. Бюллетень Национального общества по изучению болезни Паркинсона и расстройств движений 2016;(2):16–23. [Abramycheva N.Yu., Fedotova E.Yu., Ustinova V.V., Alekseev Ya.I. Next generation sequencing in diagnostics of diseases accompanied by movement disorders. Bulleten’ Natsional’nogo obschestva po izucheniyu bolezni Parkinsona i rasstroystv dvizheniy = Bulletin of the Russian National Society of Parkinson’s Disease and Movement Disorders 2016;(2):16–23. (In Russ.)].15. Caballero-Hernandez D., Toscano M.G., Cejudo-Guillen M. et al. The ‘Omics’ of amyotrophic lateral sclerosis. Trends Mol Med 2016;22(1):53–67. DOI 10.1016/j.molmed.2015.11.001. PMID: 26691296.Caballero-Hernandez D., Toscano M.G., Cejudo-Guillen M. et al. The ‘Omics’ of amyotrophic lateral sclerosis. Trends Mol Med 2016;22(1):53–67. DOI 10.1016/j.molmed.2015.11.001. PMID: 26691296.16. Benatar M., Boylan K., Jeromin A. et al. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve 2016;53(2):169–82. DOI: 10.1002/mus.24979. PMID: 26574709.Benatar M., Boylan K., Jeromin A. et al. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve 2016;53(2):169–82. DOI: 10.1002/mus.24979. PMID: 26574709.17. Vijayalakshmi K., Ostwal P., Sumitha R. et al. Role of VEGF and VEGFR2 receptor in reversal of ALS-CSF induced degeneration of NSC-34 motor neuron cell line. Mol Neurobiol 2015;51(3):995–1007. DOI: 10.1007/s12035-014-8757-y. PMID: 24880751.Vijayalakshmi K., Ostwal P., Sumitha R. et al. Role of VEGF and VEGFR2 receptor in reversal of ALS-CSF induced degeneration of NSC-34 motor neuron cell line. Mol Neurobiol 2015;51(3):995–1007. DOI: 10.1007/s12035-014-8757-y. PMID: 24880751.18. Исмаилов Ш.М., Барыкова Ю.А., Шмаров М.М. и др. Экспериментальный подход к генной терапии болезни двигательного нейрона на основе использования генов гипоксия-индуцибельных факторов. Генетика 2014;(5):591–601. [Ismailov S.M., Barykova Yu.A., Shmarov M.M. et al. Experimental approach to gene therapy of motor neuron disease based on hypoxia-inducible factors genes. Genetika = Genetics 2014;(5):591–601. (In Russ.)].Исмаилов Ш.М., Барыкова Ю.А., Шмаров М.М. и др. Экспериментальный подход к генной терапии болезни двигательного нейрона на основе использования генов гипоксия-индуцибельных факторов. Генетика 2014;(5):591–601. [Ismailov S.M., Barykova Yu.A., Shmarov M.M. et al. Experimental approach to gene therapy of motor neuron disease based on hypoxia-inducible factors genes. Genetika = Genetics 2014;(5):591–601. (In Russ.)].19. Chio A., Calvo A., Mazzini L. et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 2012;79(19):1983–9. DOI: 10.1212/WNL.0b013e3182735d36. PMID: 23100398.Chio A., Calvo A., Mazzini L. et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 2012;79(19):1983–9. DOI: 10.1212/WNL.0b013e3182735d36. PMID: 23100398.20. Greenway M.J., Andersen P.M., Russ C. et al. ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet 2006;38(4):411–3. DOI: 10.1038/ng1742. PMID: 16501576.Greenway M.J., Andersen P.M., Russ C. et al. ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet 2006;38(4):411–3. DOI: 10.1038/ng1742. PMID: 16501576.21. Pfister T., Sekhon R., White M. et al. Familial amyotrophic lateral sclerosis in Alberta, Canada. Amyotroph Lateral Scler Frontotemporal Degener 2013;14(4):273–7. DOI: 10.3109/21678421.2012.754044. PMID: 23286750.Pfister T., Sekhon R., White M. et al. Familial amyotrophic lateral sclerosis in Alberta, Canada. Amyotroph Lateral Scler Frontotemporal Degener 2013;14(4):273–7. DOI: 10.3109/21678421.2012.754044. PMID: 23286750.