线粒体脑肌病的研究进展_Journal of Epilepsy

Authors：

李军强 ,  王天成

兰州大学第二医院癫痫中心（兰州 730030）;

Corresponding author：

王天成, Email: 814984027@qq.com

Keywords：

线粒体脑肌病; 诊断; 基因; 研究

DOI：

10.7507/2096-0247.20210073

Video：

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线粒体脑肌病是一类由线粒体基因或核基因突变引起的线粒体结构或功能损害，三磷酸腺苷（ATP）合成不足，导致中枢神经系统和肌肉组织等多系统功能障碍的疾病。目前缺乏确切的临床流行病学资料，诊断主要根据临床表现、头部磁共振成像（MRI）、肌肉组织活检及基因检测和生化结果及肌电图等。目前尚无特殊治疗方法，以对症治疗为主。由于线粒体脑肌病临床表现多样、发病机制复杂，常常被误诊为脑卒中、癫痫等疾病。本文旨在对近期线粒体脑肌病的研究进展作一综述，以提高对其认识水平，提高诊断率，降低误诊率，为线粒体脑肌病的临床诊治提供一个参考。

Citation： 李军强, 王天成. 线粒体脑肌病的研究进展. 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.	中华医学会神经病学分会. 中国神经系统线粒体病的诊治指南. 中华神经科杂志, 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.	赵丹华, 王朝霞, 于磊, 等. 线粒体脑肌病伴高乳酸血症和卒中样发作综合征患者的脑磁共振成像改变动态演变规律. 中华神经科杂志, 2014, 47(4): 229-231.
14.	Falcão 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.	张晓, 王朝霞, 刘凤君, 等. 线粒体脑肌病伴高乳酸血症和卒中样发作的癫痫发作及脑电图特点分析. 中华神经科杂志, 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.	刘媛媛. 1例误诊为脑梗死的线粒体脑肌病. 卒中与神经疾病 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. 中华医学会神经病学分会. 中国神经系统线粒体病的诊治指南. 中华神经科杂志, 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. 赵丹华, 王朝霞, 于磊, 等. 线粒体脑肌病伴高乳酸血症和卒中样发作综合征患者的脑磁共振成像改变动态演变规律. 中华神经科杂志, 2014, 47(4): 229-231.
14. Falcão 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. 张晓, 王朝霞, 刘凤君, 等. 线粒体脑肌病伴高乳酸血症和卒中样发作的癫痫发作及脑电图特点分析. 中华神经科杂志, 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. 刘媛媛. 1例误诊为脑梗死的线粒体脑肌病. 卒中与神经疾病 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

线粒体脑肌病的研究进展

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