线粒体脑肌病与癫痫发病机制的关系_Journal of Epilepsy

Authors：

 王艳丽 ,  孔庆霞

天津医科大学(天津, 272000);

Corresponding author：

孔庆霞, Email: kqx1970@aliyun.com

Keywords：

DOI：

10.7507/2096-0247.20150042

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Citation： 王艳丽, 孔庆霞. 线粒体脑肌病与癫痫发病机制的关系. Journal of Epilepsy, 2015, 1(3): 246-250. doi: 10.7507/2096-0247.20150042 Copy

1.	Dimauro S, Moraes CT. Mitochondrial encephalomyopathies.Arch Neurol, 1993, 50(11):1197-1208.
2.	Dimauro S, Tay S, Mancuso M, et al. Mitochondrial encephalomyopathies:diagnostic approach. Ann Acad Sci, 2004, 10(11):217-231.
3.	王维治, 陈生弟, 崔丽英, 等.神经病学.第2版.北京:人民卫生出版社, 2013:1339-1350.
4.	Bertini ED, Amico A. Mitochondrial encephalomyopathies and relatedsyndromes:brief review. Endocr Dev, 2009, 14(20):38-52.
5.	Kara B, Arıkan M, Maras H, et al. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. Mol Genet Metab, 2012, 107(3):389-393.
6.	Mezghani N, Mkaouar-Rebai E, Mnif M, et al. The heteroplasmic m.14709T>C mutation in the tRNA (Glu) gene in two Tunisian families with mitochondrial diabetes. J Diabetes Complications, 2010, 24(4):270-277.
7.	Yamamoto H, Tang HW. Preventive effect of melatonin against cyanide-induced seizures and lipid peroxidation in mice. Neurosci Lett, 1996, 207(2):89-92.
8.	Urbanska EM, Blaszczak P, Saran T, et al. Mitochondrial toxin 3-nitropropionic acid evokes seizures in mice. Eur J Pharmacol, 1998, 359(1):55-58.
9.	Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med, 2012, 44(1):41-59.
10.	DiMauro S. Mitochondrial disease. Biochim Biophys Acta, 2004, 16(58):80-88.
11.	Spinazzola A, Zeviani M. Disorder of nuclear-mitochondrialinter genomic communication. Biosci Rep, 2007, 27(14):39-51.
12.	Mende S, Storch A, Reichmann H, et al. Gene expression profinling of classic mitochondrial disorders, its value in finding therapeutic strategies. Nervenarzt, 2007, 78(10):1155-1159.
13.	Chinnery PF, Howell N, Lightowlers RN, et al.MELAS and MERRF:the relationship between maternal mutation load and the frequency ofclinically affected offspring.Brain, 1998, 121(Pt 10):1889-1894.
14.	Lax NZ, Pienaar IS, Reeve AK, et al. Microangiopathy in thecerebellum of patients with mitochondrial DNA disease. Brain, 2012, 135(pt 6):1736-1750.
15.	Garone C, Tadesse S, Hirano M, et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain, 2011, 134(pt11):3326-3332.
16.	姚生, 戚晓昆. MELAS综合征.中国神经免疫学和神经病学杂志, 2010, 17(3):228-231.
17.	Schapira AH. Mitochondrial diseases. Lancet, 2012, 379(9828):1825-1834.
18.	Finsterer J. Genetic pathogenetic and phenotypic implications of the mitochondrial A3243G tRNAleu (UUR) mutation. Acta Neurol Scand, 2007, 116(1):1-14.
19.	Goodfellow JA, Dani K, Stewart W, et al. Mitochondrialmyopathy, encephalopathy, lactic acidosis and stroke-like episodes:an important cause of stroke in young people. Postgrad Med J, 2012, 88(1040):326-334.
20.	Abbott JA, Francklyn CS, Robey-Bond SM, et al. Transfer RNA and human disease. Front Genet, 2014, 3(5):158.
21.	Khurana DS, Valencia DM, Goldenthal MJ, et al. Mitochondrial dysfunction in epilepsy. Semin Pediatr Neurol, 2013, 20(3):176-187.
22.	Martinc B, Grabnar I, Vovk T, et al. The role of reactive species in epileptogenesis and influence of anti drug therapy on oxdative stress. Curr Neuropharmacol, 2012, 10(8):328-343.
23.	Folbergrová J, Kunz WS. Mitochondrial dysfunction in epilepsy. Mitochondrion, 2012, 12(1):35-40.
24.	Kunz WS, Kudin AP, Vielhaber S, et al. Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Ann Neurol, 2000, 48(5):766-773.
25.	Rowley S, Patel M. Mitochondrial involvement and oxidative stress in temporal lobe epilepsy. Free Radic Biol Med, 2013, 62(33):121-131.
26.	Kovac S, Domijan AM, Walker MC, et al. Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death. J Cell Sci, 2011, 125(Pt7):1796-1806.
27.	Venditti P, Di Stefano L, Di Meo S, et al. Mitochondrial metabolism and oxygen species. Mitochondrion, 2013, 13(2):71-82.
28.	Yamamoto H, Tang HW. Preventive effect of melatonin against cyanide-induced seizures and lipid peroxidation in mice. Neurosci Lett, 1996, 207(2):89-92.
29.	Kang HC, Lee YM, Kim HD, et al. Mitochondrial disease and epilepsy. Brain Dev, 2013, 35(8):757-761.
30.	Folbergrová J, Kunz WS. Mitochondrial dysfunction in epilepsy. Mitochondrion, 2012, 12(1):35-40.
31.	Hsu Lisa, T Emrick, Patel M, et al. Mitochondrial involvement and oxidative stress in temporal lobe epilepsy. Biol Med, 2014, 12(3):120-126.
32.	Liang LP, Waldbaum S, Rowley S, et al. Mitochondrial oxidative stress in SOD2 deficient mice:attenuationbya lipophilic metal loporphyrin. Neurobiol Dis, 2012, 45(3):1068-1076.
33.	Gao J, Chi ZF, Liu XW, et al. Mitochondrial dysfunction and ultra structural damage in the hippocampus of pilocarpine-induced epileptic rat. Neurosci Lett, 2007, 41(1):152-157.
34.	Folbergrová J, Ješina P, N Au.G sková H, et al. Antioxidant enzymes in cerebral cortex of immature rats followingexperimentally-induced seizures:upregulation of mitochondrial MnSOD (SOD2). Int J Dev Neurosci, 2013, 31(10):123-130.
35.	Mueller SG, Trabesinger AH, Boesiger P, et al. Brain glutathione elevelsin patients with epilepsy measured by in vivo H-MRS. Neurology, 2001, 57(26):1422-1427.
36.	Vielhaber S, Niessen HG, Debska-Vielhaber G, et al. Subfield-specific loss of hippocampal N-acetylaspartate in temporal lobe epilepsy. Epilepsia, 2008, 49(23):40-50.
37.	Hämäläinen RH, Manninen T, Koivumäki H, et al. Tissue-and cell-typy specific manifestations of hetero plasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model. Proc Natl Acad Sci USA, 2013, 110(38):E3622-3630.
38.	Ayman W, Hattab E, Jean W, et al. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and argin in supplementation. Mol Genet Metab, 2012, 105(4):607-614.
39.	刘健康, 王学敏, 龙建纲, 等.线粒体医学与健康.北京:科学出版社, 2012:260-285.
40.	Chen CY, Chen HF, Gi SJ, et al. Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation. Mitochondrion, 2011, 11(5):739-749.
41.	Pineda M, Ormazabal A, Lopez-Gallardo E, et al. Cerebral folate deficiency and leukoence phalopathy caused by a mitochondrial DNA deletion. Ann Neurol, 2006, 59(2):394-398.
42.	Harris MO, Walsh LE, Hattab EM, et al. Is it ADEM, POLG, or both? Arch Neurol, 2010, 67(4):493-496.
43.	Wu SB, Ma YS, Wu YT, et al. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol, 2010, 41(2-3):256-266.
44.	Azakli H, Gurses C, Arikan M, et al. Whole mitochondrial DNA variations in hippocampal specimens and blood samples with high-throughput sequencing:a case of mesial temporal lobe epilepsy with hippocampal sclerosis. Gene, 2013, 529(1):190-194.
45.	Zhang X, Chen G, Lu Y, et al. Association of mitochondrial Letm1 with epileptic seizures. Cereb Cortex, 2014, 24(10):2533-2540.
46.	Tzoulis C, Bindoff LA. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain, 2012, 135(12):3627-3634.
47.	Kunz WS. The role of mitochondria in epileptogenesis. Curr Opin Neurol, 2002, 15(2):179-184.
48.	Fujikawa DG, Zhao S, Ke X, et al. Mild as well as severe insults produce necrotic, not apoptotic cells:evidence from 60 min seizures. Neurosci Lett, 2010, 469(36):333-337.
49.	Bengzon J, Kokaia Z, Elmer E, et al. Apoptosis and proliferation of dentate gyrus neurons after single and intermittent limbic seizures. Proc Natl Acad Sci USA, 1997, 94(19):10432-10437.
50.	赵忠礼, 宋从磊, 杨斌, 等.中国人MELAS型线粒体脑肌病一例报告及文献复习.中国优生与遗传杂志, 2015, 231(1):122-125.
51.	Canafoglia L, Franceschetti S, Antozzi C, et al. Epileptic phenotypes asscociated with mitochondrial disorders. Neurology, 2001, 56(10):1340-1346.
52.	迟兆富.线粒体脑肌病与癫痫.神经损伤与功能重建, 2007, 2(5):257-261.

1. Dimauro S, Moraes CT. Mitochondrial encephalomyopathies.Arch Neurol, 1993, 50(11):1197-1208.
2. Dimauro S, Tay S, Mancuso M, et al. Mitochondrial encephalomyopathies:diagnostic approach. Ann Acad Sci, 2004, 10(11):217-231.
3. 王维治, 陈生弟, 崔丽英, 等.神经病学.第2版.北京:人民卫生出版社, 2013:1339-1350.
4. Bertini ED, Amico A. Mitochondrial encephalomyopathies and relatedsyndromes:brief review. Endocr Dev, 2009, 14(20):38-52.
5. Kara B, Arıkan M, Maras H, et al. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. Mol Genet Metab, 2012, 107(3):389-393.
6. Mezghani N, Mkaouar-Rebai E, Mnif M, et al. The heteroplasmic m.14709T>C mutation in the tRNA (Glu) gene in two Tunisian families with mitochondrial diabetes. J Diabetes Complications, 2010, 24(4):270-277.
7. Yamamoto H, Tang HW. Preventive effect of melatonin against cyanide-induced seizures and lipid peroxidation in mice. Neurosci Lett, 1996, 207(2):89-92.
8. Urbanska EM, Blaszczak P, Saran T, et al. Mitochondrial toxin 3-nitropropionic acid evokes seizures in mice. Eur J Pharmacol, 1998, 359(1):55-58.
9. Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med, 2012, 44(1):41-59.
10. DiMauro S. Mitochondrial disease. Biochim Biophys Acta, 2004, 16(58):80-88.
11. Spinazzola A, Zeviani M. Disorder of nuclear-mitochondrialinter genomic communication. Biosci Rep, 2007, 27(14):39-51.
12. Mende S, Storch A, Reichmann H, et al. Gene expression profinling of classic mitochondrial disorders, its value in finding therapeutic strategies. Nervenarzt, 2007, 78(10):1155-1159.
13. Chinnery PF, Howell N, Lightowlers RN, et al.MELAS and MERRF:the relationship between maternal mutation load and the frequency ofclinically affected offspring.Brain, 1998, 121(Pt 10):1889-1894.
14. Lax NZ, Pienaar IS, Reeve AK, et al. Microangiopathy in thecerebellum of patients with mitochondrial DNA disease. Brain, 2012, 135(pt 6):1736-1750.
15. Garone C, Tadesse S, Hirano M, et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain, 2011, 134(pt11):3326-3332.
16. 姚生, 戚晓昆. MELAS综合征.中国神经免疫学和神经病学杂志, 2010, 17(3):228-231.
17. Schapira AH. Mitochondrial diseases. Lancet, 2012, 379(9828):1825-1834.
18. Finsterer J. Genetic pathogenetic and phenotypic implications of the mitochondrial A3243G tRNAleu (UUR) mutation. Acta Neurol Scand, 2007, 116(1):1-14.
19. Goodfellow JA, Dani K, Stewart W, et al. Mitochondrialmyopathy, encephalopathy, lactic acidosis and stroke-like episodes:an important cause of stroke in young people. Postgrad Med J, 2012, 88(1040):326-334.
20. Abbott JA, Francklyn CS, Robey-Bond SM, et al. Transfer RNA and human disease. Front Genet, 2014, 3(5):158.
21. Khurana DS, Valencia DM, Goldenthal MJ, et al. Mitochondrial dysfunction in epilepsy. Semin Pediatr Neurol, 2013, 20(3):176-187.
22. Martinc B, Grabnar I, Vovk T, et al. The role of reactive species in epileptogenesis and influence of anti drug therapy on oxdative stress. Curr Neuropharmacol, 2012, 10(8):328-343.
23. Folbergrová J, Kunz WS. Mitochondrial dysfunction in epilepsy. Mitochondrion, 2012, 12(1):35-40.
24. Kunz WS, Kudin AP, Vielhaber S, et al. Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Ann Neurol, 2000, 48(5):766-773.
25. Rowley S, Patel M. Mitochondrial involvement and oxidative stress in temporal lobe epilepsy. Free Radic Biol Med, 2013, 62(33):121-131.
26. Kovac S, Domijan AM, Walker MC, et al. Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death. J Cell Sci, 2011, 125(Pt7):1796-1806.
27. Venditti P, Di Stefano L, Di Meo S, et al. Mitochondrial metabolism and oxygen species. Mitochondrion, 2013, 13(2):71-82.
28. Yamamoto H, Tang HW. Preventive effect of melatonin against cyanide-induced seizures and lipid peroxidation in mice. Neurosci Lett, 1996, 207(2):89-92.
29. Kang HC, Lee YM, Kim HD, et al. Mitochondrial disease and epilepsy. Brain Dev, 2013, 35(8):757-761.
30. Folbergrová J, Kunz WS. Mitochondrial dysfunction in epilepsy. Mitochondrion, 2012, 12(1):35-40.
31. Hsu Lisa, T Emrick, Patel M, et al. Mitochondrial involvement and oxidative stress in temporal lobe epilepsy. Biol Med, 2014, 12(3):120-126.
32. Liang LP, Waldbaum S, Rowley S, et al. Mitochondrial oxidative stress in SOD2 deficient mice:attenuationbya lipophilic metal loporphyrin. Neurobiol Dis, 2012, 45(3):1068-1076.
33. Gao J, Chi ZF, Liu XW, et al. Mitochondrial dysfunction and ultra structural damage in the hippocampus of pilocarpine-induced epileptic rat. Neurosci Lett, 2007, 41(1):152-157.
34. Folbergrová J, Ješina P, N Au.G sková H, et al. Antioxidant enzymes in cerebral cortex of immature rats followingexperimentally-induced seizures:upregulation of mitochondrial MnSOD (SOD2). Int J Dev Neurosci, 2013, 31(10):123-130.
35. Mueller SG, Trabesinger AH, Boesiger P, et al. Brain glutathione elevelsin patients with epilepsy measured by in vivo H-MRS. Neurology, 2001, 57(26):1422-1427.
36. Vielhaber S, Niessen HG, Debska-Vielhaber G, et al. Subfield-specific loss of hippocampal N-acetylaspartate in temporal lobe epilepsy. Epilepsia, 2008, 49(23):40-50.
37. Hämäläinen RH, Manninen T, Koivumäki H, et al. Tissue-and cell-typy specific manifestations of hetero plasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model. Proc Natl Acad Sci USA, 2013, 110(38):E3622-3630.
38. Ayman W, Hattab E, Jean W, et al. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and argin in supplementation. Mol Genet Metab, 2012, 105(4):607-614.
39. 刘健康, 王学敏, 龙建纲, 等.线粒体医学与健康.北京:科学出版社, 2012:260-285.
40. Chen CY, Chen HF, Gi SJ, et al. Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation. Mitochondrion, 2011, 11(5):739-749.
41. Pineda M, Ormazabal A, Lopez-Gallardo E, et al. Cerebral folate deficiency and leukoence phalopathy caused by a mitochondrial DNA deletion. Ann Neurol, 2006, 59(2):394-398.
42. Harris MO, Walsh LE, Hattab EM, et al. Is it ADEM, POLG, or both? Arch Neurol, 2010, 67(4):493-496.
43. Wu SB, Ma YS, Wu YT, et al. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol, 2010, 41(2-3):256-266.
44. Azakli H, Gurses C, Arikan M, et al. Whole mitochondrial DNA variations in hippocampal specimens and blood samples with high-throughput sequencing:a case of mesial temporal lobe epilepsy with hippocampal sclerosis. Gene, 2013, 529(1):190-194.
45. Zhang X, Chen G, Lu Y, et al. Association of mitochondrial Letm1 with epileptic seizures. Cereb Cortex, 2014, 24(10):2533-2540.
46. Tzoulis C, Bindoff LA. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain, 2012, 135(12):3627-3634.
47. Kunz WS. The role of mitochondria in epileptogenesis. Curr Opin Neurol, 2002, 15(2):179-184.
48. Fujikawa DG, Zhao S, Ke X, et al. Mild as well as severe insults produce necrotic, not apoptotic cells:evidence from 60 min seizures. Neurosci Lett, 2010, 469(36):333-337.
49. Bengzon J, Kokaia Z, Elmer E, et al. Apoptosis and proliferation of dentate gyrus neurons after single and intermittent limbic seizures. Proc Natl Acad Sci USA, 1997, 94(19):10432-10437.
50. 赵忠礼, 宋从磊, 杨斌, 等.中国人MELAS型线粒体脑肌病一例报告及文献复习.中国优生与遗传杂志, 2015, 231(1):122-125.
51. Canafoglia L, Franceschetti S, Antozzi C, et al. Epileptic phenotypes asscociated with mitochondrial disorders. Neurology, 2001, 56(10):1340-1346.
52. 迟兆富.线粒体脑肌病与癫痫.神经损伤与功能重建, 2007, 2(5):257-261.

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线粒体脑肌病与癫痫发病机制的关系

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