Митохондриальные нарушения при врожденных миопатиях
Аннотация
В обзоре литературы приводятся данные о роли митохондриальных нарушений в патогенезе врожденных миопатий: врожденных мышечных дистрофий и врожденных структурных миопатий. Описываются изменения при врожденных мышечных дистрофиях с поражением коллагена VI типа, миодистрофии с гигантскими митохондриями, врождённых «стержневых» миопатиях, миотубулярной миопатий и др. Представлены результаты клинических и экспериментальных исследований. Описываются подходы к терапии энергетических нарушений при врожденных миопатиях.
Об авторах
Д. А. ХарламовРоссия
к.м.н., в.н.с. отделения психоневрологии и эпилептологии Научно-исследовательского института педиатрии
Т. И. Баранич
Россия
асп. каф. гистологии эмбриологии и цитологии Российского национального исследовательского медицинского университета им. Н.И. Пирогова
В. В. Глинкина
Россия
д.м.н., проф., зав. той же каф. 117997 Москва, ул. Островитянова, д. 1
А. В. Брыдун
Россия
к.м.н., ст.н.с. научно-исследовательской лаборатории общей патологии того же института 125412 Москва, ул. Талдомская, д. 2
Список литературы
1. Allison W.S., Scheffler I. (eds.): Mitochondrial Function. Part A, Volume 456: Mitochondrial Electron Transport Complexes and Reactive Oxygen Species (Methods in Enzymology). Amsterdam: Academic Press 2009; 592.
2. Rowland L.P., Blake DM., Hirano M. et al. Clinical syndromes associated with raggedred fibers. Rev Neurol 1991; 147:467-473.
3. DiMauro S., Bonilla E., Davidson M. et al. Mitochondria in neuromuscular disorders. Biochim Biophys Acta 1998; 1366: 199-210.
4. Gimeno A., Trueba J.L., BlancoM. et al. Mitochondrial functions in five cases of human neuromuscular disorders. J Neurol Neurosurg Psychiat 1973; 36: 806—812.
5. Sperl W., Skladal D., Gnaiger E. et al. High-resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Mol Cell Biochem 1997; 174: 71-78.
6. Jongpiputvanich S., Sueblinvong Т., Norapucsunton T. Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. J Clin Neurosci 2005; 12: 426—428.
7. Харламов Д.А., Сухорукое B.C. Влияние митохондрий на клинические проявления наследственных миопатии. Рос вестн перинатол и педиат 2013; 4: 78—82. (Kharlamov DA., Sukhorukov V.S. Impact of the mitochondria on the clinical manifestations of congenital myopathies. Ros vestn perinatal i pediat 2013; 4: 78—82.)
8. Katsetos CD., Koutzaki S., Melvin J.J. Mitochondrial dysfunction in neuromuscular disorders. Semin Pediatr Neurol 2013; 20: 3: 202-215.
9. Сухорукое B.C., Харламов Д.А. Врожденные миопатии. М: ООО Пресс-Арт2010; 155. (SukhorukovVS., Kharlamov DA. Congenital myopathies. Moscow: OOO Press-Art, 2010; 155.)
10. Влодавец Д.В. Клиническое значение митохондриаль-ных изменений, обоснование применения энерготропной терапии и оценка ее эффективности при врожденных миопатиях у детей: Автореф. дис. ... канд. мед. наук. М 2009; 27. (Vlodavets D.V The clinical significance of mitochondrial changes, rationale for the use of energotropic therapy and evaluation of its effectiveness in children with congenital myopathies: Avtoref. dis. ... kand. med. nauk. Moscow 2009; 27.)
11. Angelin A., Bonaldo P., Bernardi P. Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. Biochim Biophys Acta 2008; 1777: 893-896.
12. Merlini L., Angelin A., Tiepolo T. et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci USA 2008; 105: 5225-5229.
13. Bernardi P., Bonaldo P. Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. Ann N Y Acad Sci 2008; 1147: 303-311.
14. Sabatelli P., Palma E., Angelin A. et al. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. J Cell Physiol 2012; 227: 2927-2935.
15. Bernardi P., Bonaldo P. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harb Perspect Biol 2013; 5:aO11387.
16. MitsuhashiS., OhkumaA., Talim B. et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 2011; 88: 845—851.
17. Mitsuhashi S., Nishino I. Megaconial congenital muscular dystrophy due to loss-of-function mutations in cholinekinase p. Curr Opin Neurol 2013; 26: 536-543.
18. Gutierrez Rios P., Kalra A.A., Wilson J.D. et al. Congenital megaconial myopathy due to a novel defect in the choline kinasep gene. Arch Neurol 2012; 69: 657—661.
19. Quinlivan R., Mitsuahashi S., Sewry С et al. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. NeuromusculDisord 2013; 23: 549-556.
20. Kaplan J.-CL, Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders 2013; 23: 1081—1111.
21. GualandiF., Urciuolo A., MartoniE. et al. Autosomal recessive Bethlem myopathy. Neurology 2009; 73: 22: 1883—1891.
22. Grumati P., Coletto L., Sabatelli P. et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16: 1313-1320.
23. Angelin A., Tiepolo Т., Sabatelli P. et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc NatlAcadSci USA 2007; 104: 991-996.
24. Telfer W.R., Busta A.S., Bonnemann C.G. et al. Zebrafish models of collagen Vl-related myopathies. Hum Mol Genet 2010; 19: 2433-2444.
25. HicksD.,LampeA.K.,LavalS.H. etal. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 2009; 132: Pt 1:147-155.
26. Merlini L., Sabatelli P., Armaroli A. et al. Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results. Oxid Med Cell Longev 2011; 2011: 139194.
27. Hansson M.J., Mattiasson G., Mansson R. et al. Thenonimm unosuppressivecyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. J Bioenerg Biomembr 2004; 36: 407-413.
28. Tiepolo Т., Angelin A., Palma E. et al. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6al—/— myopathic mice. Br J Pharmacol 2009; 157: 6: 1045-1052.
29. Nishino I. New congenital muscular dystrophy due to CHKB mutations. Rinsho Shinkeigaku2013; 53: 11: 1112—1113.
30. Kondo H., Tanda K., Tabata C. et al. Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. Brain Dev 2013; doi: 10.1016/j.braindev.2013.09.005.
31. Kurihara M., Kumagai K, Nakae Y. et al. Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels—therapeutic effects of oral selenium administration. No ToHattatsu 2000; 32: 4: 346—351.
32. Herasse M., Parain K., Marty I. et al. Abnormal distribution of calcium-handling proteins: A novel distinctive marker in core myopathies. J Neuropathol Exp Neurol 2007; 66: 57—65.
33. Jungbluth H., Sewry C.A., MuntoniF. Core myopathies. Semin Pediatr Neurol 2011; 18: 239-249.
34. Munteanu I., Zhou H., Hargreaves I. et al. Investigating mitochondria in cell culture models of core myopathies. Neuromuscular Disorders 2012; 22: 7—35.
35. Jungbluth H., Bowling J.J., Ferreiro A. et al. 182nd ENMC International Workshop: RYR1 related myopathies. 15—17 April 2011, Naarden, The Netherlands. Neuromuscular Disorders 2012; 22: 453—462.
36. Bowling J.J., Arbogast S., Hur J. et al. Oxidative stress and successful antioxidant treatment in models of RYRl-related myopathy. Brain 2012; 135: Pt4: 1115-1127.
37. Sewry C.A., Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr OpinNeurol 2008; 21: 569—575.
38. Bevilacqa J.A., Bitoun M., Biancolana V. et al. Necklace fibers, a new histological marker of late-oncet MTMl-related centronuclear myopathy. Acta Neuropathol 2009; 117:283—291.
39. Hnia K., Tronchere H., Tomczak K.K. et al. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. JClin Invest 2011; 121: 70-85.
40. Wanschit J., Nakano S., Goudeau B. et al. Myofibrillar (desmin-related) myopathy: Clinico-pathological spectrum in 3 cases and review of the literature. Clin Neuropathol 2002; 21:220-231.
41. Durieux A.C., Vignaud A., Prudhon B. et al. A centronuclear myopathy-dynamin 2mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet 2010; 19: 4820-4836.
42. Liu N., Bezprozyannaya S., Shelton J.M. et al. Mice lacking microRNA 133a develop dynamin2—dependent centronuclear myopathy. J Clin Invest 2011; 121: 3258—3268.
43. Tinelli E., Pereira J.A., Suter U. Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. Hum Mol Genet 2013; 22: 21: 441-729.
44. Fidziaiiska A., Glinka Z. Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. Muscle Nerve 2012; 46: 1: 125—129.
45. Suchorukov V., KharlamovD., VlodavetsD. etal. Mitochondrial disorders in a child with congenital fiber type disproportion. Acta myologica 2010; 29: 230.
46. Gineste C, De Winter J.M., Kohl C. et al. In vivo and in vitro investigations of heterozygous nebulinknock-out mice disclose a mild skeletal muscle phenotype. Neuromuscular Disorders 2013; 23: 357-369.
47. Влодавец Д.В., Сухорукое B.C., Харламов Д.А., Белоусо-ва Е.Д. Использование метаболической терапии при лечении врожденных миопатий у детей. Вестн педиат фармакол и нутрициол 2008; 3: 20—24. (Vlodavets D.V., Sukhorukov VS., KharlamovD.A., BelousovaE.D. Metabolic therapy in the treatment of congenital myopathies in children. Vestn pediat farmakol i nutritsiol 2008; 3: 20—24.)
Рецензия
Для цитирования:
Харламов Д.А., Баранич Т.И., Глинкина В.В., Брыдун А.В. Митохондриальные нарушения при врожденных миопатиях. Российский вестник перинатологии и педиатрии. 2014;59(3):32-38.
For citation:
Kharlamov D.A., Baranich T.I., Glinkina V.V., Brydun A.V. Mitochondrial disorders in congenital myopathies. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(3):32-38. (In Russ.)