　トップページ > 研究紹介 > 老化制御研究チーム > 健康長寿ゲノム探索研究 > ミトコンドリアDNAに関する研究 > 主要文献

老化制御研究チーム　

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健康長寿ゲノム探索研究

１．ミトコンドリアDNAに関する研究

Nishigaki Y, Bonilla E, Shanske S, Gaskin DA, DiMauro S and Hirano M: Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly). Neurology, 58: 1282-1285 (2002)

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J. et al.: Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. Am J Hum Genet, 71: 679-683 (2002)

Marti R, Nishigaki Y and Hirano M: Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun, 303: 14-18 (2003)

Nishigaki Y, Marti R, Copeland WC and Hirano M: Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest, 111: 1913-1921 (2003)

Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S et al.: A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul Disord, 13: 334-340 (2003)

Marti R, Nishigaki Y, Vila MR and Hirano M: Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Clin Chem Lab Med, 41: 845-851 (2003)

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S. et al.: Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol, 60: 1279-1284 (2003)

Nishigaki Y, Marti R and Hirano M: ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet, 13: 91-101 (2004)

Marti R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y and Hirano M: Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem, 50: 120-124 (2004)

10.

Hirano M, Marti R, Vila MR and Nishigaki Y: MtDNA maintenance and stability genes: MNGIE and mtDNA depletion syndromes. Mitochondrial Function and Biogenesis (Topics in Current Genetics), Springer-Verlag, 177-200 (2004)
　

11.

Hirano M, Nishigaki Y and Marti R: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist, 10: 8-17 (2004)

12.

Hirano M, Marti R, Spinazzola A, Nishino I and Nishigaki Y: Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids, 23, 1217-1225 (2004)

13.

Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. J Neurol Sci, 228: 93-97 (2005)

14.

Hirano M, Lagier-Tourenne C, Valentino ML, Marti R, Nishigaki Y. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene, 354; 152-156 (2005)

15.

Fuku N, Nishigaki Y, Tanaka M. [Human mitochondrial genome polymorphism database (mtSNP)]. Tanpakushitsu Kakusan Koso, 50: 1753-1758 (2005) (Japanese)
　

16.

Hirano M, Nishino I, Nishigaki Y, Marti R. Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Intern Med, 45: 1103 (2006)
　

17.

Tanaka M, Fuku N, Nishigaki Y, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Yamada Y. Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes, 56: 518-521 (2007)
　

18.

Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M. Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males. Hum Genet, 120: 827-836 (2007)
　

19.

Fuku N, Park KS, Yamada Y, Nishigaki Y, Cho YM, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Nozawa Y, Lee HK, Tanaka M. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet, 80: 407-415 (2007)
　

20.

Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M. Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females. Mitochondrion, 7:72-79 (2007)
　

21.

Alexe G, Fuku N, Bilal E, Ueno H, Nishigaki Y, Fujita Y, Ito M, Arai Y, Hirose N, Bhanot G, Tanaka M. Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population. Hum Genet, 121: 347-356 (2007)
　

22.

Tanaka M, Nishigaki Y, Ibi T, Sahashi K. Koga Y. Letter to the Editor, Therapeutic potential of pyruvate therapy for mitochondrial diseases. Mitochondrion, 7:399-401 (2007)
　

23.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, Dimauro S, Davidson MM.A Functionally Dominant Mitochondrial DNA Mutation. Hum Mol Genet, 17:1814-20. (2008)
　

24.

Bilal E, Rabadan R, Alexe G, Fuku N, Ueno H, Nishigaki Y, Fujita Y, Ito M, Arai Y, Hirose N, Ruckenstein A, Bhanot G, Tanaka M. Mitochondrial DNA Haplogroup D4a is a Marker for Extreme Longevity in Japan. PLoS ONE, 3:e2421. (2008)
　

25.

Nishigaki I., Venugopal R., Rajendran P., Ekambaram G., Sakthisekaran D. and Nishigaki Y. Effect of extract of pomegranate (Punica granatum L) on glycated protein-iron chelate-induced toxicity: An in vitro study on human umbilical-vein endothelial cells J. Health Sci 54, 441-449 (2008).
　

26.

Yoshida T, Kato K, Fujimaki T, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Yamada Y. Association of a polymorphism of apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome. Genomics 93, 221-226 (2009)
　

27.

Yoshida T, Kato K, Yokoi K, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Suzuki T, Nozawa Y, Yamada Y. Association of genetic variants with chronic kidney disease in Japanese individuals with type 2 diabetes mellitus. Int J Mol Med 23, 529-537 (2009)
　

28.

Fujimaki T, Kato K, Yoshida T, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Kimura G, Yamada Y. Association of genetic vriants with myocardial infarction in Japanese individuals with chronic kidney disease. Thromb Haemost 101, 963–968 (2009)
　

29.

Yoshida T, Kato K, Yokoi K, Watanabe S, Metoki N, Satoh K, Aoyagi Y, Nishigaki Y, Nozawa Y, Yamada Y. Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension. Hypertens Res 32, 411 – 418.
　

30.

Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Nozawa Y, Yamada Y. Association of gene polymorphisms with chronic kidney disease in high-risk or low-risk subjects defined by conventional risk factors. Int J Mol Med 23, 785-792 (2009)
　

31.

Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Nozawa Y, Yamada Y. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. Int J Mol Med 24, 233-246 (2009)
　

32.

Oguri M, Kato K, Yokoi K, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Yoshida H, Nozawa Y, Yamada Y. Association of polymorphisms of THBS2 and HSPA8 with hypertension in Japanese individuals with chronic kidney disease. Mol Med Rep 2, 205-211 (2009)
　

33.

Yoshida T, Kato K, Fujimaki T, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Kimura G, Yamada Y. Association of genetic variants with chronic kidney disease in Japanese individuals. Clin J Am Soc Nephrol, in press (2009)
　

34.

Oguri M, Kato K, Yokoi K, Itoh T, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Yamada Y. Association of genetic variants with myocardial infarction in Japanese individuals with metabolic syndrome. Atherosclerosis, in press (2009)
　

35.

Nishigaki I, Rajendran P, Venugopal R, Ekambaram G, Sakthisekaran D, Nishigaki Y. Cytoprotective role of astaxanthin against glycated protein/iron chelate-induced toxicity in human umbilical vein endothelial cells. Phytother Res, in press (2009)
　

36.

Ueno H, Nishigaki Y, Kong QP, Fuku N, Kojima S, Iwata N, Ozaki N, Tanaka M. Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia. Mitochondrion, in press (2009)
　

37.

Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto YI, Wakamoto H, Koga Y, Tanaka M. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. Biochim Biophys Acta, in press (2009)
　

38.

西垣裕, 木村彰方, 田中雅嗣: ミトコンドリア心筋症, 『心筋症　診断の手引きとその解説』（北畠顕, 友池仁暢, 編）. 厚生労働省難治性疾患克服研究事業特発生心筋症調査研究班, p85-96. (2005)
　

39.

西垣裕、田中雅嗣.　生化学・分子生物学トピックス, ミトコンドリアと長寿, 医学のあゆみ, 217: 282-283 (2006)
　

40.

西垣裕、福典之、田中雅嗣.　A.ミトコンドリアの基礎、6. 老化とミトコンドリア、Clinical Neuroscience, 中外医学社 647-649 (2006)
　

41.

西垣裕、福典之、田中雅嗣.　ミトコンドリア機能異常と老年病（総説）、日本老年医学会雑誌 43: 274-282 (2006)
　

42.

西垣裕、福典之、田中雅嗣.　ミトコンドリアと老化（総説）、老年医学update 2006-07, メジカルビュー社 pp. 24-34 (2006)
　

43.

西垣裕、福典之、田中雅嗣.　老化に関連するミトコンドリアゲノム多型（総説）、日本農芸化学会会誌, 化学と生物 44: 674-680 (2006)
　

44.

西垣裕、田中雅嗣.　ミトコンドリア心筋症、新目でみる循環器シリーズ14：心筋症, メジカルビュー社 pp. 206-214 (2007)
　

45.

西垣裕、田中雅嗣.　ミトコンドリア心筋症 (Mitochondrial cardiomyopathy)—診断と治療戦略—, 分子心血管病8: 119-129. 先端医学社 (2007)
　

46.

西垣裕、福典之、田中雅嗣. ミトコンドリア機能異常と老年病（総説）、老年医学update 2007-08, メジカルビュー社pp. 154-163 (2007)
　

47.

西垣裕、福典之、田中雅嗣. ミトコンドリアと酸化ストレス、アポトーシス. Medical Science Digest, 34:339-342 (2008)
　

48.

阿部由紀子、西垣裕. 「Industry News」蛍光ビーズアレイを用いたミトコンドリアDNA網羅的迅速解析法の有用性. Medical Science Digest, 34:361-365 (2008)
　

49.

西垣裕、田中雅嗣.　ミトコンドリアDNAと寿命, 遺伝子変異蓄積とポリプラズミーのメカニズム, Mitochondrial DNA and longevity: Polyplasmy and accumulation of mtDNA mutations, 医学のあゆみ,227: 567-572 (2008)
　

50..

西垣裕、上野仁美、細矢博子、福　典之、田中雅嗣.　蛍光ビーズアレイを用いたミトコンドリアDNAの網羅的迅速解析法, 基礎老化研究33: 23-26 (2009)
　

51.

西垣裕、田中雅嗣.　第5章　神経の変性・老化とミトコンドリア.「脳内老化制御とバイオマーカー」pp.65-76. (2009)
　

52.

西垣裕、田中雅嗣. その他の寿命関連遺伝子—ミトコンドリア遺伝子.アンチエイジング医学—基礎・臨床研究の進歩—. 日本臨床 67: 1299-1305. (2009)
　