Лаборатория молекулярной генетики наследственных заболеваний | Институт молекулярной генетики

Сломинский Петр Андреевич

Сломинский Петр Андреевич
Заведующий лабораторией
Ученая степень:
доктор биологических наук
Ученое звание:
Профессор
Адрес электронной почты:
slomin@img.ras.ru
Телефон:
+7-499-196-02-10
   
   

Список сотрудников

Сломинский Петр Андреевич, д.б.н., профессор
Шадрина Мария Игоревна, д.б.н., в.н.с.
Филатова Елена Владиславовна, к.б.н., н.с.
Бондаренко Елена Александровна, к.б.н., н.с.
Алиева Анеля Ханларовна, к.б.н., н.с.
Шульская Марина Вадимовна, м.н.с.
Волкова Анастасия Павловна, м.н.с.
Руденок Маргарита Максимовна, аспирант
Власов   Иван, аспирант
Староватых  Юлия , аспирант

   
   

Основные направления исследований

Основные работы направлены на изучение молекулярных механизмов развития моногенных и мультифакториальных заболеваний человека, в первую очередь - неврологических (хорея Гентингтона, торсионная дистония, болезнь Вильсона-Коновалова, спиномозжечковые атаксии, болезнь Паркинсона, острый инсульт) и на изучение механизмов действия коротких регуляторных пептидов и создаваемых на их основе лекарственных препаратов.
   
   

Основные достижения

В последние годы (2010-2015) было впервые показано, что в развитие спорадической формы болезни Паркинсона в российской популяции существенный вклад вносят делеции и дупликации экзонов гена PARK2.
Выявлен новый ген-кандидат болезни Паркинсона – ген WFS1, белковый продукт которого является мембранным гликопротеином эндоплазматического ретикулума. Он предположительно участвует в формировании синаптических везикул, что говорит о его важной роли в функционировании синапсов, а, следовательно, и в жизнедеятельности нейронов.
Впервые выявлено достоверное изменение сплайсинга генов, вовлеченных в процессы клеточного транспорта, в клетках крови больных болезнью Паркинсона, находящихся на ранних стадиях развития заболевания до начала лечения. Это может быть связано с нарушением везикулярного транспорта, наблюдаемого при данной патологии.
    
    

Основные публикации

  1. Slominsky P.A., Markova E.D., Shadrina M.I., Illarioshkin S.N., Miklina N.I.,  Limborska S.A., Ivanova-Smolenskaya I.A. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset   torsion dystonia. Human Mutation. 1999. Vol.14, N3. p.269-272.
  2. Slominsky P.A., Shadrina M.I., Kondratyeva E.A., Typitsina T.V., Levitsky G.N., Skvortsova V.I., Limborska S.A. Cu,Zn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala(D90A) mutation and novel rare polymorphism IVS3+35 A>C. Human Mutations. 2000. Vol.16, N3. p.227-228
  3. Illarioshkin S.N., Ivanova-Smolenskaya I.A., Tanaka H., Vereshchagin N.V., Markova E.D., Poleshchuk V.V., Lozhnikova S.M., Sukhorukov V.S., Limborska S.A., Slominsky P.A., Bulayeva K.B., Tsuji S. Clinical and molecular analysis of a large family with three disticnct phenotypes of progressive muscular dystrophy. Brain, v. 119, p.1120-1141, 1996.
  4. Illarioshkin SN, Markova ED, Slominsky PA, Miklina NI, Popova SN, Limborska SA, Tsuji S, Ivanova-Smolenskaya IA. The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia. Arch Neurol, 1998, V.55, N6, P.789-792.
  5. Popova SN, Slominsky PA, Pocheshnova EA, Balanovskaya EV, Tarskaya LA, Bebyakova NA, Bets LV, Ivanov VP, Livshits LA, Khusnutdinova EK, Spitcyn VA, Limborska SA Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations  European J. of  Human Genetics, 2001, 9 (11): 829-835
  6. Skvortsova VI, Limborska SA, Slominsky PA, Levitskaya NI, Levitsky GN, Shadrina MI, Kondratyeva EA Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia European J. of Neurology, 2001, 8 (2): 167-172
  7. Shadrina MI, Dolotov OV, Grivennikov IA, Slominsky PA, Andreeva LA, Inozemtseva LS, Limborska SA, Myasoedov NF Rapid induction of neurotrophin mRNAs in rat glial cell cultures by Semax, an adrenocorticotropic hormone analog Neuroscience letters, 2001, 308 (2): 115-118
  8. Illarioshkin SN, Slominsky PA, Ovchinnikov IV, Markova ED, Miklina NI, Klyushnikov SA, Shadrina M, Vereshchagin NV, Limborskaya SA, Ivanova-Smolenskaya IA   Spinocerebellar ataxia type 1 in Russia. Journal of Neurology, 1999,   243 (7): 506-510
  9. Korneev S.A., Maleeva N.E., Slominsky P.A.,  Limborska  S.A.,  Jintcharadze A.G.,  Ivanov P.L.,  Ryskov A.P. Cloning of Alu-containing cDNAs from human fibroblasts and identification of small Alu+poly(A)+ RNAs in a variety of human normal and tumor cells. FEBS Lett,  V212, N2, p.208‑212, 1987       
  10. E.D.Markova, P.A.Slominsky, S.N. Illarioshkin,  N.I. Miklina, S.N. Popova, S.A. Limborska, Ivanova-Smolenskaya I.A.  A   novel  mutation in the  GTP cyclohydrolase I gene associated with  a  broad range  of  clinical  presentations in a  familu  with  autosomal dominant dopa  responsive  dystonia European  J.  of  Neurology, 1999, 6,  605-608.  
  11. Limborska S.A., Balanovsky O.P., Balanovskaya E.V., Slominsky P.A., Schadrina M. I., Livshits L.A., Kravchenko S.A., Pampuha V.M., Khusnutdinova E.K., Spitsyn V.A. Analysis of CCR5Δ32 geographic distribution and its correlation with some climatico-geographic factors. Human Heredity. 2002. Vol. 53, P.49-54.
  12. S.N. Illarioshkin, M. Periquet, N. Rawal, Ch. Lucking, T.B. Zagorovskaya, P.A. Slominsky, O.V. Miloserdova, E.D. Markova, S.A. Limborska, I.A. Ivanova-Smolenskaya, A. Brice. Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile Parkinsonism. Movement disorders. 2003. V.18, P. 914-919.
  13. Belyaeva O., Bermisheva M., Khrunin A., Slominsky P., Bebyakova N., Khusnutdinova E., Mikulich A., Limborska S. Mitochondrial DNA variation in Russian and Belorussian populations. Human Biology. 2003. 75(5) P. 647-660.
  14. V. Skvortsova, M. Shadrina, P. Slominsky, G. Levitsky, E. Kondratievа, A. Zherebtsova, N. Levitskaya, A. Alekhin, A. Serdyuk, S. Limborska. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). Eur.J.Hum. Genet. 2004, V. 12(3). P. 241-244.
  15. Skvortsova VI, Slominsky PA, Gubskii LV, Koltsova EA, Shetova IM, Platonova IA, Tupitsyna TI, Khrunin AV, Limborska SA. Connection between p53 gene Bam HI RFLP polymorphism with the volume of brain infarction in patients with carotid atherothrombotic ischemic stroke. Restor Neurol Neurosci. 2004. V. 22. P. 81-85.
  16. Shadrina M, Nikopensius T, Slominsky P, Illarioshkin S, Bagyeva G, Markova E, Ivanova-Smolenskaia I, Kurg A, Limborska S, Metspalu A. Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology. Neurosci Lett. 2006. 405(3). P. 212-216.
  17. Verbenko D.A., Slominsky P.A., Spitsyn V.A., Bebyakova N.A., Khusnutdinova E.K., Mikulich A.I., Tarskaia L.A., Sorensen M.V., Ivanov V.P., Bets L.V., Limborska S.A. Polymorphisms at locus D1S80 and other hypervariable regions in the analysis of Eastern European ethnic group relationships. Ann Hum Biol. 2006. 33(5-6). P. 570-580.
  18. Shadrina M, Nikopensius T, Slominsky P, Illarioshkin S, Bagyeva G, Markova E, Ivanova-Smolenskaia I, Kurg A, Limborska S, Metspalu A. Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology. Neurosci Lett. 2006. 405(3):212-216.
  19. Verbenko D.A., Slominsky P.A., Spitsyn V.A., Bebyakova N.A., Khusnutdinova E.K., Mikulich A.I., Tarskaia L.A., Sorensen M.V., Ivanov V.P., Bets L.V., Limborska S.A. Polymorphisms at locus D1S80 and other hypervariable regions in the analysis of Eastern European ethnic group relationships. Ann Hum Biol. 2006. 33(5-6):570-584
  20. Shadrina M., Slominsky P., Zherebtsova A., Levitsky G., Levitskaya N., Alekhin A., Serdyuk A., Semenova E., Skvortsova V., Limborska S. Detoxification gene polymorphisms and suspectibility to sporadic motor neuron disease in Russian population. Balkan J. of Medical Genetics. 2006. 16:81-87.
  21. S. N. Illarioshkin, M. I. Shadrina, P. A. Slominsky, E. V. Bespalova, T. B. Zagorovskaya, G. Kh. Bagyeva, E. D. Markova, S. A. Limborska and I. A. Ivanova-Smolenskaya. A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson’s disease in Russia // European Journal of Neurology 2007. 14(4):413-7
  22. Agapova TY, Agniullin YV, Shadrina MI, Shram SI, Slominsky PA, Lymborska SA, Myasoedov NF. Neurotrophin gene expression in rat brain under the action of Semax, an analogue of ACTH 4-10. Neuroscience Letters. 2007. 417(2):201-5.
  23. Shadrina MI, Semenova EV, Slominsky PA, Bagyeva GH, Illarioshkin SN, Ivanova-Smolenskaia II, Limborska SA. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Medical Genetics. 2007. 8:6.
  24. Shadrina MI, Slominsky PA, Limborska SA.Molecular mechanisms of pathogenesis of Parkinson's disease. Int Rev Cell Mol Biol. 2010;281:229-66.
  25. Shadrina M.I., Filatova E.V., Karabanov A. V., Slominsky P.A, Illarioshkin S.N., Ivanova-Smolenskaya I. A., Limborska S. A. “Expression analysis of suppression of tumorigenicity 13 gene in patients with Parkinson’s disease” Neuroscience Letters 473(3), 2010, 257–259
  26. Shadrina M., Kolomin T, Agapova T, Agniullin Y, Shram S, Slominsky P, Lymborska S, Myasoedov N. Comparison of the Temporary Dynamics of NGF and BDNF Gene Expression in Rat Hippocampus, Frontal Cortex, and Retina Under Semax Action. J Mol Neurosci. 2010; 41:30-35.
  27. Pivovarova O, Fisher E, Dudziak K, Ilkavets I, Dooley S, Slominsky P, Limborska S, Weickert MO, Spranger J, Fritsche A, Boeing H, Pfeiffer AF, Rudovich N. A polymorphism within the connective tissue growth factor (CTGF) gene has no effect on non-invasive markers of beta-cell area and risk of type 2 diabetes. Dis Markers. 2011;31(4):241-6.
  28.  Kolomin T, Shadrina M, Andreeva L, Slominsky P, Limborska S, Myasoedov N.Expression of inflammation-related genes in mouse spleen under tuftsin analog Selank. Regul Pept. 2011 Oct 10;170(1-3):18-23.
  29. Semenova EV, Shadrina MI, Slominsky PA, Ivanova-Smolenskaya IA, Bagyeva G, Illarioshkin SN, Limborska SA. Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease. Mov Disord. 2012 Jan;27(1):139-42.
  30. Filatova EV, Alieva AKh, Shadrina MI, Slominsky PA. MicroRNAs: possible role in pathogenesis of Parkinson's disease. Biochemistry (Mosc). 2012 Aug;77(8):813-9.
  31. Kolomin T, Morozova M, Volkova A, Shadrina M, Andreeva L, Slominsky P,Limborska S, Myasoedov N. The temporary dynamics of inflammation-related genes expression under tuftsin analog Selank action. Mol Immunol. 2014 Mar;58(1):50-5.
  32. Alieva AKh, Shadrina MI, Filatova EV, Karabanov AV, Illarioshkin SN, Limborska SA, Slominsky PA. Involvement of endocytosis and alternative splicing in the formation of the pathological process in the early stages of Parkinson's disease. Biomed Res Int. 2014;2014:718732. doi: 10.1155/2014/718732.
  33. Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patterson N, Daly MJ, Price AL, Neale BM. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015 Mar;47(3):291-5.
  34. Alieva AKh, Filatova EV, Karabanov AV, Illarioshkin SN, Limborska SA, Shadrina MI, Slominsky PA. miRNA expression is highly sensitive to a drug therapy in Parkinson's disease. Parkinsonism Relat Disord. 2015 Jan;21(1):72-4.
  35. Gusev A, Lee SH, Trynka G, Finucane H, VilhjГЎlmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium, KГ¤hler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S,   Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 6;95(5):535-52.
  36. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. 
  37. Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ; Schizophrenia Working Group of Psychiatric Genomics Consortium, de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. Nat Genet. 2015 Dec;47(12):1385-92. doi: 10.1038/ng.3431. Epub 2015 Nov 2. PubMed PMID: 26523775; PubMed Central PMCID:PMC4666835.
  38.  Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium, O'Donovan MC,Thompson PM, Neale BM, Medland SE, Sullivan PF. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat Neurosci. 2016 Mar;19(3):420-431. doi: 10.1038/nn.4228. Epub 2016 Feb 1. PubMed PMID: 26854805; PubMed Central PMCID: PMC4852730.
  39. Bigdeli TB, Ripke S, Bacanu SA, Lee SH, Wray NR, Gejman PV, Rietschel M, Cichon S, St Clair D, Corvin A, Kirov G, McQuillin A, Gurling H, Rujescu D, Andreassen OA, Werge T, Blackwood DH, Pato CN, Pato MT, Malhotra AK, O'Donovan MC, Kendler KS, Fanous AH; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402.Epub 2015 Dec 11. PubMed PMID: 26663532; PubMed Central PMCID: PMC5816590.
  40. Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Daly MJ, Carroll MC, Stevens B, McCarroll SA. Schizophrenia risk from complex variation of complement component 4. Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27. PubMed PMID: 26814963; PubMed Central PMCID: PMC4752392.
  41. Bondarenko EA, Shadrina MI, Grishkina MN, Druzhkova TA, Akzhigitov RG, Gulyaeva NV, Guekht AB, Slominsky PA. Genetic Analysis of BDNF, GNB3, MTHFR, ACE and APOE Variants in Major and Recurrent Depressive Disorders in Russia. Int J Med Sci. 2016 Dec 8;13(12):977-983. eCollection 2016. PubMed PMID: 27994504; PubMed Central PMCID: PMC5165692.
  42. Shulskaya MV, Shadrina MI, Fedotova EY, Abramycheva NY, Limborska SA, Illarioshkin SN, Slominsky PA. Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene. Int J Neurosci. 2017 Sep;127(9):781-784. doi: 10.1080/00207454.2016.1255612. Epub 2016 Nov 16. PubMed PMID: 27798970.
  43. Alieva AK, Filatova EV, Kolacheva AA, Rudenok MM, Slominsky PA, Ugrumov MV, Shadrina MI. Transcriptome Profile Changes in Mice with MPTP-Induced Early Stages of Parkinson's Disease. Mol Neurobiol. 2017 Nov;54(9):6775-6784. doi: 10.1007/s12035-016-0190-y. Epub 2016 Oct 18. PubMed PMID: 27757834.
  44. Volkova A, Shadrina M, Kolomin T, Andreeva L, Limborska S, Myasoedov N, Slominsky P. Selank Administration Affects the Expression of Some Genes Involved in GABAergic Neurotransmission. Front Pharmacol. 2016 Feb 18;7:31. doi:10.3389/fphar.2016.00031. eCollection 2016. PubMed PMID: 26924987; PubMed Central PMCID: PMC4757669.
  45. Shadrina MI, Shulskaya MV, Klyushnikov SA, Nikopensius T, Nelis M, Kivistik PA, Komar AA, Limborska SA, Illarioshkin SN, Slominsky PA. ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. Cerebellum Ataxias. 2016 Jan 13;3:2. doi: 10.1186/s40673-016-0040-8. eCollection 2016. PubMed PMID: 26770814; PubMed Central PMCID: PMC4712497.
  46. Filatova EV, Alieva A, Shadrina MI, Slominsky PA. Differences in Relative Levels of 88 microRNAs in Various Regions of the Normal Adult Human Brain. Microrna. 2017 Aug 16;6(2):125-135. doi: 10.2174/2211536606666170519141723. PubMed PMID: 28523997.
  47. Filatova E, Kasian A, Kolomin T, Rybalkina E, Alieva A, Andreeva L, Limborska S, Myasoedov N, Pavlova G, Slominsky P, Shadrina M. GABA, Selank, and Olanzapine Affect the Expression of Genes Involved in GABAergic Neurotransmission in IMR-32 Cells. Front Pharmacol. 2017 Feb 28;8:89. doi: 10.3389/fphar.2017.00089. eCollection 2017. PubMed PMID: 28293190; PubMed Central PMCID: PMC5328971.
  48. Kasian A, Kolomin T, Andreeva L, Bondarenko E, Myasoedov N, Slominsky P, Shadrina M. Peptide Selank Enhances the Effect of Diazepam in Reducing Anxiety in Unpredictable Chronic Mild Stress Conditions in Rats. Behav Neurol. 2017;2017:5091027. doi: 10.1155/2017/5091027. Epub 2017 Feb 9. PubMed PMID:28280289; PubMed Central PMCID: PMC5322660.