線粒體腦肌病的研究進展_Journal of Epilepsy

Authors：

李軍強 ,  王天成

蘭州大學第二醫院癲癇中心（蘭州 730030）;

Corresponding?author：

王天成, Email: 814984027@qq.com

Keywords：

線粒體腦肌病; 診斷; 基因; 研究

DOI：

10.7507/2096-0247.20210073

Video：

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線粒體腦肌病是一類由線粒體基因或核基因突變引起的線粒體結構或功能損害，三磷酸腺苷（ATP）合成不足，導致中樞神經系統和肌肉組織等多系統功能障礙的疾病。目前缺乏確切的臨床流行病學資料，診斷主要根據臨床表現、頭部磁共振成像（MRI）、肌肉組織活檢及基因檢測和生化結果及肌電圖等。目前尚無特殊治療方法，以對癥治療為主。由于線粒體腦肌病臨床表現多樣、發病機制復雜，常常被誤診為腦卒中、癲癇等疾病。本文旨在對近期線粒體腦肌病的研究進展作一綜述，以提高對其認識水平，提高診斷率，降低誤診率，為線粒體腦肌病的臨床診治提供一個參考。

Citation： 李軍強, 王天成. 線粒體腦肌病的研究進展. Journal of Epilepsy, 2021, 7(5): 440-444. doi: 10.7507/2096-0247.20210073 Copy

1.	Habibzadeh P, Silawi M, Dastsooz H, et al. Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy. BMC Gastroenterology, 2020, 20(1): 753-759.
2.	中華醫學會神經病學分會. 中國神經系統線粒體病的診治指南. 中華神經科雜志, 2015, 48(12): 1045-1051.
3.	Lorenzoni PJ, Werneck LC, Kay CS, et al. When should MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis? Arq Neuropsiquiatr, 2015, 73(11): 959-967.
4.	Nd A, Ts B, Bp B, et al. Functional analysis of a novel POLγA mutation associated witha severe perinatal mitochondrial encephalomyopathy. Neuromuscular Disorders, 2021, 31(4): 348-358.
5.	El-Hattab AW, Jahoor F. Assessment of nitric oxide production in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with the use of a stable is otope tracer infusion technique. Journal of Nutrition, 2017, 147(7): 1251-1257.
6.	Liu K, Zhou Z, Pan M, et al. Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy. CNS Neuroscience& Therapeutics, 2021, 33(4): 431-437.
7.	Mojtabavi H, Fatehi F, Shahkarami S, et al. Novel mutations of the TYMP gene in mitochondrial neurogastrointestinal encephalomyopathy: case series and literature review, 2021, 34(2): 92-97.
8.	Kim S, Sohn S I, Bae H, et al. Late onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes diagnosed using urinary epithelial cells. Journal of Neurosonology and Neuroimaging, 2020, 12(1): 44-47.
9.	Libernini L, Lupis C, Mastrangelo M, et al. Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two italianbrothers. Neuropediatrics, 2012, 43(4): 201-208.
10.	Gunnewiek T, Hugte E, Frega M, et al. M. 3243A>G induced mitochondrial dysfunction impairs human neuronal development and reduces neuronal network activity and synchronicity. Cell Reports, 2020, 21; 31(3): 107538.
11.	Huang Y, Long-Bai MA, Tian XW, et al. MRI imaging findings of 15 cases of mitochondrial encephalomyopathy. Lingnan Journal of Emergency Medicine, 2019, 33(3): 352-361.
12.	Wang S, Song T, Wang S. Mitochondrial DNA 10158T> C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case report and literature review (CARE-complaint). Medicine, 2020, 12; 99(24): e20310.
13.	趙丹華, 王朝霞, 于磊, 等. 線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征患者的腦磁共振成像改變動態演變規律. 中華神經科雜志, 2014, 47(4): 229-231.
14.	Falc?o de Campos C, Oliveira Santos M, Roque R, et al. Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutation in thymidine phosphorylase gene in a patient from cape verde islands. Case reports in neurological medicine, 2019, 11: 5976410.
15.	Lindgren U, Roos S, Hedberg OC, et al. Mitochondrial pathology in inclusion body myositis. Neuromuscular Disorders Nmd, 2015, 25(4): 281-288.
16.	Xueping QU, Bai R, Neurology DO. Progress in the study of MELAS. Chinese Journal of Practical Nervous Diseases, 2018, 20; 62(3): 235-254.
17.	Voronkova A. Genomics testing and its applications in personalized pediatric services (mt-DNA). Meta Gene, 2018, 17: S6.
18.	Liu XQ, Shen SQ, Yang GC, et al. Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report. Medicine, 2019, 98(19): e15534.
19.	Martine, Uittenbogaard, Hao, et al. The nuclear background influences the penetrance of the near-homoplasmic m1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother. Molecular Genetics & Metabolism, 2019, 126(4): 429-438.
20.	Chevallier JA, Von Allmen GK, Koenig MK. Seizure semiology and EEG findings in mitochondrial diseases. Epilepsia, 2014, 55(5): 707-712.
21.	張曉, 王朝霞, 劉鳳君, 等. 線粒體腦肌病伴高乳酸血癥和卒中樣發作的癲癇發作及腦電圖特點分析. 中華神經科雜志, 2014, 47(5): 336-340.
22.	Ti A, Ns A, Sm A, et al. The necessity of implantable cardioverter defibrillators in patients with kearns-sayre syndrome systematic review of the articles science direct. International Journal of Cardiology, 2019, 279: 105-111.
23.	Chi CS. Diagnostic approach in infants and children with mitochondrial diseases. Pediatrics & Neonatology, 2015, 56(1): 7-18.
24.	Jeppesen TD, Vissing J. The pathophysiology of exercise and effect of training in mitochondrial myopathies, 2019, 45(5): 231-239.
25.	Guo, Zhang, Fei, et al. The biochemical characterization of a missense mutation m8914C> T in ATP6 gene associated with mitochondrial encephalomyopathy. International journal of developmental neuroscience, the official journal of the International Society for Developmental Neuroscience, 2018, 71: 172-174.
26.	Na Ye, Jing-Yi Liu, Xi-Ping Gong, et al. White matter connection's damage not cortical activation, leading to language dysfunctionof mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes. Chinese Medical Journal (Engl), 2019(5): 597-599.
27.	Whitehead MT, Wien M, Lee B, et al. Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. Neuroradiology, 2017, 59(8): 813-818.
28.	Khan NA, Govindaraj P, Meena AK, et al. Mitochondrial disorders: Challenges in diagnosis & treatment. Indian Journal of Medical Research, 2015, 141(1): 13-26.
29.	Song TT, Qian LI. Current status and research progress of clinical diagnosis and treatment of mitochondrial myopathy. Journal of Gannan Medical University, 2019, 65(5): 57-63.
30.	Xu XB, Ji KQ, Lyu JW, et al. Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation. Chinese Medical Journal (Engl), 2019, 132(006): 716-718.
31.	Finsterer J. Viability of diffusion tensor imaging for assessing retro-chiasmatic involvementin kearns-sayre syndrome remains elusive. Neuroradiology, 2019, 62(2): 231-242.
32.	Nikolaeva EA, Volgina SY, Khaliullina CD, et al. Mitochondrial encephalomyopathy associated with pyruvate dehydrogenase complex deficiency: eight clinical cases. Вопросal современной педиатрии, 2020, 44(8): 12-17.
33.	Jameel I, Sreh A, Das P. Recurrent stroke events secondary to a late presentation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms (MELAS) syndrome. Cureus, 2020, 12(12): 332-345.
34.	劉媛媛. 1例誤診為腦梗死的線粒體腦肌病. 卒中與神經疾病 2020, 27(03): 388-389.
35.	Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for leber hereditary optic neuropathy: initial results. Ophthalmology, 2016, 123(3): 558-570.
36.	Zhe Zhang, Danhua Zhao, Xiao Zhang, et al. Survival analysis of a cohort of chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features. Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology, 2018, 385(2): 151-155.

1. Habibzadeh P, Silawi M, Dastsooz H, et al. Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy. BMC Gastroenterology, 2020, 20(1): 753-759.
2. 中華醫學會神經病學分會. 中國神經系統線粒體病的診治指南. 中華神經科雜志, 2015, 48(12): 1045-1051.
3. Lorenzoni PJ, Werneck LC, Kay CS, et al. When should MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis? Arq Neuropsiquiatr, 2015, 73(11): 959-967.
4. Nd A, Ts B, Bp B, et al. Functional analysis of a novel POLγA mutation associated witha severe perinatal mitochondrial encephalomyopathy. Neuromuscular Disorders, 2021, 31(4): 348-358.
5. El-Hattab AW, Jahoor F. Assessment of nitric oxide production in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with the use of a stable is otope tracer infusion technique. Journal of Nutrition, 2017, 147(7): 1251-1257.
6. Liu K, Zhou Z, Pan M, et al. Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy. CNS Neuroscience& Therapeutics, 2021, 33(4): 431-437.
7. Mojtabavi H, Fatehi F, Shahkarami S, et al. Novel mutations of the TYMP gene in mitochondrial neurogastrointestinal encephalomyopathy: case series and literature review, 2021, 34(2): 92-97.
8. Kim S, Sohn S I, Bae H, et al. Late onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes diagnosed using urinary epithelial cells. Journal of Neurosonology and Neuroimaging, 2020, 12(1): 44-47.
9. Libernini L, Lupis C, Mastrangelo M, et al. Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two italianbrothers. Neuropediatrics, 2012, 43(4): 201-208.
10. Gunnewiek T, Hugte E, Frega M, et al. M. 3243A>G induced mitochondrial dysfunction impairs human neuronal development and reduces neuronal network activity and synchronicity. Cell Reports, 2020, 21; 31(3): 107538.
11. Huang Y, Long-Bai MA, Tian XW, et al. MRI imaging findings of 15 cases of mitochondrial encephalomyopathy. Lingnan Journal of Emergency Medicine, 2019, 33(3): 352-361.
12. Wang S, Song T, Wang S. Mitochondrial DNA 10158T> C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case report and literature review (CARE-complaint). Medicine, 2020, 12; 99(24): e20310.
13. 趙丹華, 王朝霞, 于磊, 等. 線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征患者的腦磁共振成像改變動態演變規律. 中華神經科雜志, 2014, 47(4): 229-231.
14. Falc?o de Campos C, Oliveira Santos M, Roque R, et al. Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutation in thymidine phosphorylase gene in a patient from cape verde islands. Case reports in neurological medicine, 2019, 11: 5976410.
15. Lindgren U, Roos S, Hedberg OC, et al. Mitochondrial pathology in inclusion body myositis. Neuromuscular Disorders Nmd, 2015, 25(4): 281-288.
16. Xueping QU, Bai R, Neurology DO. Progress in the study of MELAS. Chinese Journal of Practical Nervous Diseases, 2018, 20; 62(3): 235-254.
17. Voronkova A. Genomics testing and its applications in personalized pediatric services (mt-DNA). Meta Gene, 2018, 17: S6.
18. Liu XQ, Shen SQ, Yang GC, et al. Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report. Medicine, 2019, 98(19): e15534.
19. Martine, Uittenbogaard, Hao, et al. The nuclear background influences the penetrance of the near-homoplasmic m1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother. Molecular Genetics & Metabolism, 2019, 126(4): 429-438.
20. Chevallier JA, Von Allmen GK, Koenig MK. Seizure semiology and EEG findings in mitochondrial diseases. Epilepsia, 2014, 55(5): 707-712.
21. 張曉, 王朝霞, 劉鳳君, 等. 線粒體腦肌病伴高乳酸血癥和卒中樣發作的癲癇發作及腦電圖特點分析. 中華神經科雜志, 2014, 47(5): 336-340.
22. Ti A, Ns A, Sm A, et al. The necessity of implantable cardioverter defibrillators in patients with kearns-sayre syndrome systematic review of the articles science direct. International Journal of Cardiology, 2019, 279: 105-111.
23. Chi CS. Diagnostic approach in infants and children with mitochondrial diseases. Pediatrics & Neonatology, 2015, 56(1): 7-18.
24. Jeppesen TD, Vissing J. The pathophysiology of exercise and effect of training in mitochondrial myopathies, 2019, 45(5): 231-239.
25. Guo, Zhang, Fei, et al. The biochemical characterization of a missense mutation m8914C> T in ATP6 gene associated with mitochondrial encephalomyopathy. International journal of developmental neuroscience, the official journal of the International Society for Developmental Neuroscience, 2018, 71: 172-174.
26. Na Ye, Jing-Yi Liu, Xi-Ping Gong, et al. White matter connection's damage not cortical activation, leading to language dysfunctionof mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes. Chinese Medical Journal (Engl), 2019(5): 597-599.
27. Whitehead MT, Wien M, Lee B, et al. Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. Neuroradiology, 2017, 59(8): 813-818.
28. Khan NA, Govindaraj P, Meena AK, et al. Mitochondrial disorders: Challenges in diagnosis & treatment. Indian Journal of Medical Research, 2015, 141(1): 13-26.
29. Song TT, Qian LI. Current status and research progress of clinical diagnosis and treatment of mitochondrial myopathy. Journal of Gannan Medical University, 2019, 65(5): 57-63.
30. Xu XB, Ji KQ, Lyu JW, et al. Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation. Chinese Medical Journal (Engl), 2019, 132(006): 716-718.
31. Finsterer J. Viability of diffusion tensor imaging for assessing retro-chiasmatic involvementin kearns-sayre syndrome remains elusive. Neuroradiology, 2019, 62(2): 231-242.
32. Nikolaeva EA, Volgina SY, Khaliullina CD, et al. Mitochondrial encephalomyopathy associated with pyruvate dehydrogenase complex deficiency: eight clinical cases. Вопросal современной педиатрии, 2020, 44(8): 12-17.
33. Jameel I, Sreh A, Das P. Recurrent stroke events secondary to a late presentation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms (MELAS) syndrome. Cureus, 2020, 12(12): 332-345.
34. 劉媛媛. 1例誤診為腦梗死的線粒體腦肌病. 卒中與神經疾病 2020, 27(03): 388-389.
35. Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for leber hereditary optic neuropathy: initial results. Ophthalmology, 2016, 123(3): 558-570.
36. Zhe Zhang, Danhua Zhao, Xiao Zhang, et al. Survival analysis of a cohort of chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features. Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology, 2018, 385(2): 151-155.

Journal of Epilepsy

線粒體腦肌病的研究進展

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