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Медицинская генетика

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Молекулярный патогенез болезни Вильсона-Коновалова

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Аннотация

Болезнь Вильсона-Коновалова (БВК) - наследственное аутосомно-рецессивное заболевание, характеризующееся избыточным накоплением меди в органах и тканях. Распространенность БВК в мире в среднем 1 на 30000 населения. Причиной заболевания являются мутации в гене АТР7В , кодирующем АТФазу Р-типа. В обзоре обсуждаются молекулярно-генетические причины БВК, роль генов-модификаторов и пола пациентов в проявлении клинических признаков.

Об авторах

Г. М. Баязутдинова
ФГБНУ «Медико-генетический научный центр»
Россия


О. А. Щагина
ФГБНУ «Медико-генетический научный центр»
Россия


А. В. Поляков
ФГБНУ «Медико-генетический научный центр»
Россия


Список литературы

1. Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol. 1998;Suppl 1:28-36.

2. Асанов АЮ, Соколов АА, Волгина СЯ и др. Федеральные клинические рекомендации по диагностике и лечению болезни Вильсона-Коновалова. 2015.

3. Coffey AJ, Durkie M, Hague S et al. A genetic study of Wilson’s disease in the United Kingdom. Brain 2013;136 (5): 1476-1487.

4. Долгих ВТ. Патофизиология обмена веществ (избранные лекции). 2002.

5. Адо АД. Патофизиология: учебник. 2003.

6. Negah F, Bibudhendra S. Molecular mechanism of copper transport in Wilson disease. Health Perspect. 2002; Suppl 5:695-698.

7. Crisponi G, Nurchi VM, Fanni D et al. Copper-related disease: From chemistry to molecular pathology. Coordination chemistry reviews. 2010 apr;254(7-8):876-889.

8. Diane WC, Roberts AE. Wilson disease. Gastroenterology and Hepatology. clinicalgate.com.

9. Schaefer M, Roelofsen H, Wolters H et al. Localization of the Wilson’s disease protein in human liver. Gastroenterology. 1999;117(6):1380-1385.

10. Lutsenko S, LeShane ES, Shinde U. Biochemical basis of regulation of human copper-transporting ATPases. Arch Biochem Biophys. 2007 July; 463(2):134-148.

11. Новицкий ВВ, Гольдберг ЕД, Уразова ОИ. Патофизиология: учебник - 4-е изд., переработ. и доп. - ГЭОТАР-Медиа, 2009.

12. Ивашкин ВТ. Болезни печени и желчевыводящих путей. Руководство для врачей. 2002.

13. Abuduxikuer, K. Wilson disease with hepatic presentation in an eight-month-old boy. World J. Gastroenterol. 2015;21(29), 8981.

14. EASL. Clinical practice guidelines: Wilson’s disease. 2012; J. Hepatol. 56(3):671-685.

15. Walshe JM. Penicillamine: the treatment of first choice for patients with Wilson’s disease. Mov Disord, 1999;14:545-550.

16. Scheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effect of interrupting penicillamine therapy in Wilson’s disease. N Engl J Med. 1987;317:209-213.

17. Brewer GJ, Hill GM, Prasad AS et al. Oral zinc therapy for Wilson’s disease. Ann Intern Med. 1983;99:314-319.

18. Lin Y-J, Ho T-J, Lin T-H et al. P - coumaric acid regulates exon 12 splicing of the ATP7B gene by modulating hnRNP A1 protein expressions. Biomedicine (Taipei). 2015 Jun;5(2):10.

19. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993; 5:344-350.

20. Lutsenko S, Natalie L. Barnes, Mee Y Bartee, et al. Function and Regulation of Human Copper-Transporting ATPases. Physiological Reviews Published. 2007 Vol. 87; 3:1011-1046.

21. http://www.hgmd.cf.ac.uk.

22. Cocos R, Sendroiu A, Schipor S. Genotype-phenotype correlation in a mountain population community with high prevalence of Wilson’s disease: Genetic and clinical homogeneity. PLoS One. 2014; 9: e98520.

23. Lee BH, Kim JH, Lee SY, et al. Distinct clinical courses according to presenting phenotypes and their correlation to ATP7B mutation in a large Wilson’s disease cohort. Liver Int. 2011; 31:831-9.

24. Rodriguez-Granillo A, Sedlak E, Wittung-Stafshede P et al. Stability and ATP binding of the nucleotide - binding domain of the Wilson disease protein: Effect of the common H1069Q mutation. J Mol Biol. 2008; 383:1097-111.

25. Firneisz G, Szonyi L, Ferenci P et al. The other mutation is found: Follow-up of an exceptional family with Wilson disease. Am J Gastroenterol. 2004; 99:2504-5.

26. Wei Z, et al. Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China: identification of three novel mutations. Neuroreport. 2014; 25(14):1075-1080.

27. Tingxia Lv, Xiaojin Li, Wei Zhang et al. Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis. Eur J Med Genet. 2016; 59:532-9.

28. Behari M, Pardasani V. Genetics of Wilsons disease. Parkinsonism Relat Disord. 2010;16:639-44.

29. Карунас АС, Магжанова АР, Магжанов РВ. и др. Молекулярно-генетическое исследование болезни Вильсона в республике Башкортостан. Медицинская генетика, 2009; 8(8):41-48.

30. Матвеева ТИ, Заклязьминская ЕВ, Поляков АВ. Молекулярно-генетический анализ болезни Вильсона-Коновалова. Генетика человека и патология. Сборник научных трудов, 2007; 8:167.

31. Matveeva T, Zaklyazminskaya E, Polyakov A. The molecular-genetic analysis of ATP7B gene at the Russian patients with Wilson disease. Eur J Hum Genet. 2008; 16:54.

32. Metzger ME, Schagina OA. Frequent ATP7B gene mutations in Russia Wilson. Eur J Hum Genet. 2010; 18:361.

33. Huster D, Kuhne A, Bhattacharjee A et al. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology 2012; 142:947-56e5.

34. Okada T, Shiono Y, Kaneko Y et al. High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson’s disease. Scand J Gastroenterol 2010;45:1232-7.

35. Stapelbroek JM, Bollen CW, van Amstel JK et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: Results of meta-analysis. J Hepatol 2004;41:758-673.

36. Wu ZY, Wang N, Lin MT et al. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol. 2001;58:971-6.

37. Chen C, Shen B, Xiao JJ et al. Currently Clinical Views on Genetics of Wilson’s Disease. Chin Med J 2015;128-13.

38. Czlonkowska A, Gromadzka G, Chabik G et al. Monozygotic female twins discordant for phenotype of Wilson’s disease. Mov Disord 2009;24:1066-9.

39. Wang XP, Wang XH, Bao YC et al. Apolipoprotein E genotypes in Chinese patients with Wilson’s disease. QJM 2003;96:541-2.

40. Gu YH, Kodama H, Du SL et al. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson’s disease, with a concentration on those homozygous for R778L. Brain Dev 2005;27(8):551-3.

41. Litwin T, Gromadzka G, Czlonkowska A et al. Apolipoprotein E gene (APOE) genotype in Wilson’s disease: Impact on clinical presentation. Parkinsonism Relat Disord 2012;18:367-9.

42. Merle U, Stremmel W, Gessner R. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease. Arch Neurol 2006;63:982-5.

43. Gromadzka G, Rudnicka M, Chabik G et al. Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson’s disease. J Hepatol 2011;55:913-9.

44. Shulman L. Gender differences in Parkison’s disease. Gend Med 2007;4(1):8-18.

45. Bartzokis G, TishlerT, Lu H et al. Brain ferritin iron may influence age- and gender-related risks of neurodegeneration. Neurobiol Aging 2007;28:414-23.

46. Litwin T, Gromadzka G, Czlonkowska A et al. Gender differences in Wilson’s disease. J Neurol Sci 2012;312(1-2):31-5.

47. Nelson P, Schmitt F, Jicha G et al. Association between male gender and cortical Lewy body pathology in large autopsy series. J Neurol 2010;257:1875-81.

48. Haaxma CA, Bloem BR, Borm GF et al. Gender differences in Parkinson’s disease. J Neurol Neurosurg Psychiatry 2007;78(8):819-24.

49. Miller IN, Cronin-Golomb A, MA. Gender differences in Parkinson’s disease: clinical characteristic and cognition. Mov Disord 2010;25(16):2695-703.


Для цитирования:


Баязутдинова Г.М., Щагина О.А., Поляков А.В. Молекулярный патогенез болезни Вильсона-Коновалова. Медицинская генетика. 2017;16(7):18-24.

For citation:


Baiazutdinova G.M., Shchagina O.A., Poliakov A.V. Molecular-genetic characteristics of Wilson`s disease. Medical Genetics. 2017;16(7):18-24. (In Russ.)

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