Некоторые мутации митохондриального генома человека, ассоциированные с цитопатиями Medline.ru - медико-биологический информационный портал Медлайн.ру

1.Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG. Sequence and organization of the human mitochondrial genome. // Nature. 1981 V. 290. № 5806. P.457-465.

2.Wallace DC, Brown MD, Lott MT. Mitochondrial DNA variation in human evolution and disease. // Gene. 1999 V. 238, №1, P. 211-30.

3.Ota Y, Tanaka M, Sato W, Ohno K, Yamamoto T, Maehara M, Negoro T, Watanabe K, Awaya S, Ozawa T. Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome // Invest Ophthalmol Vis Sci. 1991, V. 32, №10, P. 2667-75.

4.Dhillon VS, Shahid M, Husain SA. Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men // Mol Hum Reprod. 2007, V. 13, №4, P. 213-22.

5.Tengan CH, Kiyomoto BH, Rocha MS, Tavares VL, Gabbai AA, Moraes CT. Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid // J Clin Endocrinol Metab. 1998 V.83 №1, P. 125-9.

6.Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. // Nat Genet. 1992 V. 1, №1, P. 11-15.

7.Mancuso M, Vives-Bauza C, Filosto M, Marti R, Solano A, Montoya J, Gamez J, DiMauro S, Andreu AL. A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome. // J Med Genet. 2004 V. 41, №6, P. 73.

8.Lai LP, Tsai CC, Su MJ, Lin JL, Chen YS, Tseng YZ, Huang SK. Atrial fibrillation is associated with accumulation of aging-related common type mitochondrial DNA deletion mutation in human atrial tissue. // Chest. 2003 V. 123, №2, P. 539-44.

9.Yamagata K, Muro K, Usui J, Hagiwara M, Kai H, Arakawa Y, Shimizu Y, Tomida C, Hirayama K, Kobayashi M, Koyama A. Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions. // J Am Soc Nephrol. 2002 V. 13, №7, P. 1816-23.

10.Bhat HK, Hiatt WR, Hoppel CL, Brass EP. Skeletal muscle mitochondrial DNA injury in patients with unilateral peripheral arterial disease. // Circulation. 1999 V. 99, №6, P. 807-12.

11.Botto N, Berti S, Manfredi S, Al-Jabri A, Federici C, Clerico A, Ciofini E, Biagini A, Andreassi MG. Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease. // Mutat Res. 2005 V. 570, №1, P. 81-8.

12.Wrischnik LA, Higuchi RG, Stoneking M, Erlich HA, Arnheim N, Wilson AC. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. // Nucleic Acids Res. 1987, V. 15, №2, P. 529-42.

13.Sazonova MA, Andrianova IV, Khazanova ZB, Sobenin IA. Quantitative mitochondrial genome mutation investigation and possible role of the somatic mutations in development of atherosclerotic lesion of human aorta // Atherosclerosis Suppl. 2009, V.9 №1 P.113.

14.Singh R, Ellard S, Hattersley A, Harries LW. Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. // J Mol Diagn. 2006 V. 8, №2, P. 225-30.

15.Guo ZF, Guo WS, Xiao L, Gao GQ, Lan F, Lu XG, Li K, Liao DF. Discrimination of A1555G and C1494T Point Mutations in the Mitochondrial 12S rRNA Gene by On/Off Switch // Appl Biochem Biotechnol. 2011 Nov 10. [Epub ahead of print].

16.Liang MH, Wong LJ. Yield of mtDNA mutation analysis in 2,000 patients // Am J Med Genet. 1998, V. 77, №5, P. 395-400.

17.Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss // Biochem Biophys Res Commun. 2008, V. 369 №3, P. 849-52.

18.Han CB, Ma JM, Xin Y, Mao XY, Zhao YJ, Wu DY, Zhang SM, Zhang YK. Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance. // World J Gastroenterol. 2005 V. 11, №1, P. 31-5.

19.Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. // Hum Genet. 2005 V. 117, №1, P. 9- 15.

20.Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. // Am J Hum Genet. 2004 V. 74, №1, P. 139-52.

21.Chen H, Zheng J, Xue L, Meng Y, Wang Y, Zheng B, Fang F, Shi S, Qiu Q, Jiang P, Lu Z, Mo JQ, Lu J,Guan MX. The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees. // Eur J Hum Genet. 2012.[Epub ahead of print].

22.Guan MX, Fischel-Ghodsian N, Attardi G. Molecular pathogenetic mechanism of maternally inherited deafness. // Hum Mol Genet. 1996 V. 5, №7, P. 963–971.

23.Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, d'Amati G, Schon EA, DiMauro S, Hirano M, Davidson MM. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. // Biochem Biophys Res Commun. 2002 V. 293, №1, P. 521-9.

24.Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, Guan MX. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. // Am J Med Genet A. 2004 V. 124A, №2, P. 113-7.

25.Yan N, Cai S, Guo B, Mou Y, Zhu J, Chen J, Zhang T, Li R, Liu X. A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family. // Mol Vis. 2010 V. 16, P. 1736-42.

26.Yang T, Lam CW, Tsang MW, Tong SF, Kam GY, Chan LY, Poon PM, Wu X, Pang CP. Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes. // Chin Med J (Engl). 2002 V. 115, №5, P. 753-8.

27.Gattermann N, Wulfert M, Junge B, Germing U, Haas R, Hofhaus G. Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. // Blood. 2004 V. 103, №4, P. 1499-502.

28.Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. // Lancet. 1992 V. 340. № 8832. P. 1376-9.

29.Singh R, Ellard S, Hattersley A, Harries LW. Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. // J Mol Diagn. 2006 V. 8, №2, P. 225-30.

30.Löwik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP. Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. // Nephrol Dial Transplant. 2005 V. 20. № 2. P. 336-41.

31.Wong LJ, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. // Clin Chem. 1997 V. 43. № 10. P. 1857-61.

32.Kobayashi Z, Tsunemi T, Miake H, Tanaka S, Watabiki S, Morokuma Y. A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI). // Intern Med. 2005 V. 44. № 4. P. 328-31.

33.Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J. A new point mutation associated with mitochondrial encephalomyopathy. // Hum Mol Genet. 1993 V. 2. № 12. P. 2081-7.

34.Jeppesen TD, Schwartz M, Hansen K, Danielsen ER, Wibrand F, Vissing J. Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA. // J Neurol Sci. 2003 V. 214. № 1-2. P. 17-20.

35.Собенин ИА, Сазонова МА, Мясоедова ВА, Кириченко ТВ, Иванова ММ, Постнов АЮ, Орехов АН. Полиморфизм 3256С/Т митохондриальной ДНК как маркер ишемической болезни сердца и атеросклероза // Проблемы и перспективы современной науки. 2011, Т. 3 №1, с. 108-110.

36.Turner LF, Kaddoura S, Harrington D, Cooper JM, Poole-Wilson PA, Schapira AH. Mitochondrial DNA in idiopathic cardiomyopathy. // Eur Heart J. 1998 V. 19. № 11. P. 1725-9.

37.Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K, Shimada A, Asahina T, Matsuoka K. Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. // Diabetes Care. 1997 V. 20. № 7. P. 1138-40.

38.Stenqvist L, Paetau A, Valanne L, Suomalainen A, Pihko H. A juvenile case of MELAS with T3271C mitochondrial DNA mutation. // Pediatr Res. 2005 V. 58. № 2. P. 258-62.

39.Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family. // Chin Med J (Engl). 2000 V. 113. № 2. P. 111-6.

40.Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y. A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. // Biochem Biophys Res Commun. 1995 V. 209. № 2. P. 664-8.

41.Matsunaga H, Tanaka Y, Tanaka M, Gong JS, Zhang J, Nomiyama T, Ogawa O, Ogihara T, Yamada Y, Yagi K, Kawamori R. Antiatherogenic mitochondrial genotype in patients with type 2 diabetes. // Diabetes Care. 2001 V. 24. № 3. P. 500-3.

42.Желанкин А.В., Сазонова М.А., Коробов Г.А., Хасанова З.Б., Постнов А.Ю., Орехов А.Н., Собенин И.А. Детекция замены тимина на цитозин в позиции 3336 митохондриально- го генома при атеросклеротических поражениях человека // Современный мир, природа и человек. 2011, Т.2 №1, с. 59-61.

43.Hirai M, Suzuki S, Onoda M, Hinokio Y, Ai L, Hirai A, Ohtomo M, Komatsu K, Kasuga S, Satoh Y, Akai H, Toyota T. Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus. // Biochem Biophys Res Commun. 1996 V. 219. № 3. P.951-5.

44.Chen FL, Liu Y, Song XY, Hu HY, Xu HB, Zhang XM, Shi JH, Hu J, Shen Y, Lu B, Wang XC, Hu RM. A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness. // Mutat Res. 2006 V. 602. № 1-2 P. 26-33.

45.Schollen E, Vandenberk P, Cassiman JJ, Matthijs G. Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy. // Clin Chem. 1997 V. 43. № 1. P. 18-23.

46.Руденская ГЕ, Захарова ЕЮ, Адарчева ЛС, Михайлова ЕН, Карлова ИЗ. Наследственная атрофия зрительных нервов Лебера: неврологические и другие внеглазные проявления // Журнал неврологии и психиатрии. 2004 Т.2 №40.

47.Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. // Neurogenetics. 2001 V. 3. № 3. P. 119-25.

48.Kermode AG, Moseley IF, Kendall BE, Miller DH, MacManus DG, McDonald WI. Magnetic resonance imaging in Leber's optic neuropathy. // J Neurol Neurosurg Psychiatry. 1989 V. 52. № 5. P. 671-4.

49.Puomila A, Viitanen T, Savontaus ML, Nikoskelainen E, Huoponen K. Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families. // J Neurol Sci. 2002 V. 205. № 1. P. 41-5.

50.Hwang JM, Chang BL, Koh HJ, Kim JY, Park SS. Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation. // J Korean Med Sci. 2002 V. 17. № 2. P. 283-6.

51.Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. // Am J Hum Genet. 2003 V. 72. № 2. P. 333-9.

52.Ronghua Li, Yuqi Liu, Zongbin Li, Li Yang, Shiwen Wang, Min-Xin Guan. Failures in Mitochondrial tRNAMet and tRNAGln Metabolism Caused by the Novel 4401A>G Mutation Are Involved in Essential Hypertension in a Han Chinese Family. // Hypertension, 2009 54-329.

53.Li Z, Liu Y, Yang L, Wang S, Guan MX. Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family. // Biochem Biophys Res Commun. 2008 V. 367. № 4. P. 906-11.

54.Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. // Heart. 1998 V. 80. № 6. P. 548-58.

55.Tomari Y, Hino N, Nagaike T, Suzuki T, Ueda T. Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation. // J Biol Chem. 2003 V. 278. № 19. P. 16828-33.

56.Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. // Hum Mol Genet. 2006 V. 15. № 13. P. 2076-86.

57.Mukae S, Aoki S, Itoh S, Sato R, Nishio K, Iwata T, Katagiri T. Mitochondrial 5178A/C genotype is associated with acute myocardial infarction. // Circ J. 2003 V. 67. № 1. P. 16-20.

58.Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG. A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance. // Neurology. 2000 V. 55. № 8. P. 1210-2.

59.Varlamov DA, Kudin AP, Vielhaber S, Schröder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. // Hum Mol Genet. 2002 V. 11. № 16. P. 1797-805.

60.Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. // Am J Hum Genet. 1999 V. 64. № 5. P. 1330-1339.

61.Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, García JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. // Am J Hum Genet. 1999 V. 65. № 4. P. 1030-9.

62.Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers- Huttenlocher-like disease. // Pediatrics. 2003 V. 111. № 3. P. 262-8.

63.Bornstein B, Mas JA, Patrono C, Fernández-Moreno MA, González-Vioque E, Campos Y, Carrozzo R, Martín MA, del Hoyo P, Santorelli FM, Arenas J, Garesse R. Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene. // Biochem J. 2005 V. 387. № 3. P. 773-8.

64.Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A. A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. // Am J Med Genet. 2002 V. 113. № 1. P. 59-64.

65.DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, Bonilla E, DeVivo DC. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. // Adv Neurol. 2002 № 89. P. 217-29.

66.Terasaki F, Tanaka M, Kawamura K, Kanzaki Y, Okabe M, Hayashi T, Shimomura H, Ito T, Suwa M, Gong JS, Zhang J, Kitaura Y. A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes. // Jpn Circ J. 2001 V. 65. № 7. P. 691-4.

67.Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). // Am J Hum Genet. 1996 V. 58. № 5. P. 933-9.

68.Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. // J Med Genet. 2002 V. 39. № 11. P. 812-6.

69.Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery. // Graefes Arch Clin Exp Ophthalmol. 2002 V. 240. № 9. P. 758-64.

70.Feng X, Pu W, Gao D. Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy. // Zhonghua Yan Ke Za Zhi. 2001 V. 37. № 3. P. 174-7.

71.Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. // Am J Hum Genet. 1996 V. 59. № 2. P. 481- 5.

72.Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y. High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy. // Clin Genet. 1996 V. 50. № 6. P. 535-7.

73.Nikoskelainen E, Wanne O, Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. // Lancet. 1985 V. 1. № 8430. P. 696.

74.Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. // Brain. 1995 V. 118, №2, P. 319-37.

75.Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. // Science. 1988 V. 242(4884), P. 1427-30.

76.Shin WS, Tanaka M, Suzuki J, Hemmi C, Toyo-oka T. A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. // Am J Hum Genet. 2000 V. 67, №6, P. 1617-20.

77.Grasso M, Diegoli M, Brega A, Campana C, Tavazzi L, Arbustini E. The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy. // Eur J Hum Genet. 2001 V. 9. № 4. P. 311-5.

78.Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. // Hum Mol Genet. 1996 V. 5. № 11. P. 1835-40.

79.Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. // Arch Neurol. 2005 V. 62. № 3. P. 473-476.

80.Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leighlike syndrome with isolated complex I deficiency. // J Med Genet. 2003 V. 40. № 3. P. 188-91.

81.Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA. The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. // Eur J Hum Genet. 2007 V. 15. № 2. P. 155-61.

82.Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. // Am J Med Genet A. 2004 V. 124A. № 4. P. 377-82.

83.Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. // Genetics. 1992 V. 130. № 1. P. 163-73.

84.Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, Playan A, Lopez- Perez MJ, Andreu AL, Montoya J. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. // Ann Neurol. 2003 V. 54. № 4. P. 527-30.

85.Tawata M, Hayashi JI, Isobe K, Ohkubo E, Ohtaka M, Chen J, Aida K, Onaya T. A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes. // Diabetes, 2000 V. 49. № 7. P. 1269-72.

86.Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. // N Engl J Med. 1999 V. 341. № 14. P. 1037-44.

87.Gil Borlado MC, Moreno Lastres D, Gonzalez Hoyuela M, Moran M, Blazquez A, Pello R, Marin Buera L, Gabaldon T, Garcia Peñas JJ, Martín MA, Arenas J, Ugalde C. Impact of the mitochondrial genetic background in complex III deficiency. // PLoS One. 2010 V. 5. № 9.

88.Сазонова М.А., Иванова М.М., Желанкин А.В., Митрофанов К.Ю., Хасанова Б., Собе- нин И.А., Мясоедова В.А., Постнов А.Ю., Орехов А.Н. Детекция мутации митохондриаль- ного генома человека 652insG при атеросклеротических поражениях сосудов человека. Молекулярная диагностика-2010 // Сборник трудов VII всероссийской научно-практиче- ской конференции с международным участием. Т. V, с. 109-112.

89.Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. // Hum Mol Genet.1998 V. 7, №1, P. 33-42.

90.Nomiyama T, Tanaka Y, Piao L, Hattori N, Uchino H, Watada H, Kawamori R, Ohta S. Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patients. // Ann N Y Acad Sci. 2004 V. 1011:193-204.

91.Nomiyama T, Tanaka Y, Piao L, Hattori N, Uchino H, Watada H, Kawamori R, Ohta S. Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patients. // Ann N Y Acad Sci. 2004 V. 1011. P. 193-204.