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The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.

作者信息

Molnar Mari Judit, Perenyi Jozsef, Siska Eva, Nemeth George, Nagy Zoltan

出版信息

J Neurol. 2009 Feb;256(2):264-5. doi: 10.1007/s00415-009-0841-2. Epub 2009 Mar 5.

DOI:10.1007/s00415-009-0841-2
PMID:19266142
Abstract
摘要

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1
The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.与抑郁情绪障碍相关的线粒体DNA典型MERRF（A8344G）突变。
J Neurol. 2009 Feb;256(2):264-5. doi: 10.1007/s00415-009-0841-2. Epub 2009 Mar 5.
2
A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.与复发性脑干卒中样发作相关的A8344G赖氨酸转运RNA突变
J Neurol. 2009 Feb;256(2):271-3. doi: 10.1007/s00415-009-0921-3. Epub 2009 Feb 27.
3
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.与tRNALys中A8344G突变相关的中枢和周围神经系统脱髓鞘疾病。
Neuromuscul Disord. 2009 Apr;19(4):275-8. doi: 10.1016/j.nmd.2009.01.012. Epub 2009 Mar 9.
4
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.与肌阵挛性癫痫伴破碎红纤维综合征（MERRF）及多发性对称性脂肪瘤相关的线粒体DNA A8344G突变的发病机制方面
Muscle Nerve Suppl. 1995;3:S102-6. doi: 10.1002/mus.880181421.
5
[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].[孤立性带肌无力：线粒体DNA MERRF 8344A>G突变表型谱的扩展]
Rev Neurol. 2018 Apr 16;66(8):268-270.
6
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.由tRNALys中A8344G突变（线粒体肌阵挛性癫痫伴破碎红纤维综合征）引起的帕金森综合征、神经病变和肌病。
Neurology. 2007 Jan 2;68(1):56-8. doi: 10.1212/01.wnl.0000250334.48038.7a.
7
[MERRF/MELAS overlap syndrome].[肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征]
Ryoikibetsu Shokogun Shirizu. 2001(36):159.
8
[MERRF/MELAS overlap syndrome].[肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征]
Nihon Rinsho. 2002 Apr;60 Suppl 4:296-7.
9
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome.肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征的线粒体DNA 8344A>G突变的流行病学
J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1158-9. doi: 10.1136/jnnp.74.8.1158.
10
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.线粒体DNA中的A8344G突变与类中风发作和胃肠功能障碍相关。
Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7.

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Wernicke-Korsakoff syndrome associated with mtDNA disease.与线粒体DNA疾病相关的韦尼克-科尔萨科夫综合征
Ther Adv Neurol Disord. 2020 Jul 30;13:1756286420938972. doi: 10.1177/1756286420938972. eCollection 2020.
2
Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.由m.8344A>G tRNA（Lys）突变引起的伴有破碎红纤维综合征的晚发性肌阵挛性癫痫中的银屑病、球部受累和腹泻。
Iran J Neurol. 2017 Jan 5;16(1):45-49.
3
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

本文引用的文献

1
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.常染色体显性遗传性精神疾病与线粒体DNA多处缺失：一个家族的报告
J Affect Disord. 2008 Feb;106(1-2):173-7. doi: 10.1016/j.jad.2007.05.016. Epub 2007 Jun 22.
2
Cyclic AMP response element binding protein and brain-derived neurotrophic factor: molecules that modulate our mood?环磷酸腺苷反应元件结合蛋白与脑源性神经营养因子：调节我们情绪的分子？
J Biosci. 2006 Sep;31(3):423-34. doi: 10.1007/BF02704114.
3
Review of the literature on major mental disorders in adult patients with mitochondrial diseases.
线粒体基因m.8344A>G“肌阵挛性癫痫伴破碎红纤维”（MERRF）突变的扩展表型谱：来自德国mitoNET注册中心的数据
J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.
4
Leukocyte mitochondrial DNA copy number in blood is not associated with major depressive disorder in young adults.血液中白细胞线粒体DNA拷贝数与年轻成年人的重度抑郁症无关。
PLoS One. 2014 May 8;9(5):e96869. doi: 10.1371/journal.pone.0096869. eCollection 2014.
5
Evidence for the presence of somatic mitochondrial DNA mutations in right atrial appendage tissues of coronary artery disease patients.冠心病患者右心耳组织中线粒体 DNA 体细胞突变的证据。
Mol Genet Genomics. 2014 Aug;289(4):533-40. doi: 10.1007/s00438-014-0828-2. Epub 2014 Mar 7.
6
Psychiatric symptoms of patients with primary mitochondrial DNA disorders.原发性线粒体 DNA 疾病患者的精神症状。
Behav Brain Funct. 2012 Feb 13;8:9. doi: 10.1186/1744-9081-8-9.
7
Diagnosis of mitochondrial disorders applying massive pyrosequencing.应用高通量焦磷酸测序技术进行线粒体疾病的诊断。
Mol Biol Rep. 2012 Jun;39(6):6655-60. doi: 10.1007/s11033-012-1471-9.
8
Cardiological manifestations of mitochondrial respiratory chain disorders.线粒体呼吸链疾病的心脏表现
Acta Myol. 2011 Jun;30(1):9-15.
线粒体疾病成年患者主要精神障碍的文献综述。
Psychosomatics. 2006 Jan-Feb;47(1):1-7. doi: 10.1176/appi.psy.47.1.1.
4
Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia.双相情感障碍和精神分裂症患者大脑中的线粒体DNA 3243A>G突变及LARS2基因表达增加
Biol Psychiatry. 2005 Mar 1;57(5):525-32. doi: 10.1016/j.biopsych.2004.11.041.
5
Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis.大规模DNA微阵列分析显示，双相情感障碍或精神分裂症患者死后大脑中线粒体相关基因的表达发生改变。
Hum Mol Genet. 2005 Jan 15;14(2):241-53. doi: 10.1093/hmg/ddi022. Epub 2004 Nov 24.
6
Mitochondrial diseases.线粒体疾病
Biochim Biophys Acta. 2004 Jul 23;1658(1-2):80-8. doi: 10.1016/j.bbabio.2004.03.014.
7
Brain metabolic alterations in medication-free patients with bipolar disorder.双相情感障碍未服药患者的脑代谢改变
Arch Gen Psychiatry. 2004 May;61(5):450-8. doi: 10.1001/archpsyc.61.5.450.
8
Molecular evidence for mitochondrial dysfunction in bipolar disorder.双相情感障碍中线粒体功能障碍的分子证据。
Arch Gen Psychiatry. 2004 Mar;61(3):300-8. doi: 10.1001/archpsyc.61.3.300.
9
Calcium-dependent mitochondrial superoxide modulates nuclear CREB phosphorylation in hippocampal neurons.
Mol Cell Neurosci. 2003 Dec;24(4):1103-15. doi: 10.1016/j.mcn.2003.09.003.
10
Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation.
J Inherit Metab Dis. 2001 Nov;24(6):685-7. doi: 10.1023/a:1012719211505.