新发线粒体ND3基因突变导致线粒体脑肌病伴高乳酸血症和卒中样发作综合征及肌张力障碍一例
摘要
线粒体为环状的DNA分子,目前已确定有13个为蛋白质编码的区域,包括细胞色素B、细胞色素氧化酶的3个亚基、ATP酶的2个亚基、NADH脱氢酶的7个亚基;NADH脱氢酶（NADH dehydrogenation,ND）功能缺失是引起线粒体呼吸链受损最常见的原因,其基因突变会导致线粒体蛋白质合成受损,影响线粒体的电子传递链复合体亚单位和线粒体能源生产。
出处
《癫痫杂志》
2018年第5期461-464,共4页
Journal of Epilepsy
二级参考文献19
-
1Shoubridge E A. Nuclear genetic defects of oxidative phosphorylation[J]. Hum Mol Genet, 2001, 10(20): 2277-2284.
-
2Carroll J, Fearnley I M, Skehel J M , et al. Bovine complex I is acomplex of 45 different subunits[J]. J Biol Chem, 2006, 281(43):32724-32727.
-
3Shapira Y, Harel S, Russell A. Mitochondrial encephalomyopathies:a group of neuromuscular disorders with defects in oxidativemetabolism[J]. Isr J Med Sci, 1977, 13:161-164.
-
4Emmanuele V, Silvers D S, Sotiriou E, et al. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>Cmutation[J].Muscle Nerve, 2011, 44(3): 448-451.
-
5Blakely E L, de Silva R, King A, etal. LHON/MELAS overlapsyndrome associated with a mitochondrial MTND1 gene mutation[J].Eur J Hum Genet, 2005, 13(5): 623-627.
-
6Crimi M, Galbiati S, Moroni I, et al. A missense mutation in themitochondrial ND5 gene associated with a Leigh-MELAS overlapsyndrome[J]. Neurology, 2003, 60(11): 1857-1861.
-
7Lebon S, Chol M, Benit P, et al. Recurrent de novo mitochondrialDNA mutations in respiratory chain deficiency[J]. J Med Genet,2003,40(12):896-899.
-
8Taylor RW, Singh-Kler R, Hayes CM, et al. Progressive mitochondrialdisease resulting from a novel missense mutation in the mitochondrialDNA ND3 gene[J]. Ann Neurol, 2001, 50(1):104-107.
-
9Malfatti E, Bugiani M, Invernizzi F, et al. Novel mutations of ND genesin complex I deficiency associated with mitochondrial encephalopathy[J].Brain, 2007, 130(Pt7): 1894-1904.
-
10Crimi M, Alexandros Papadimitriou A, Sara Galbiati S, et al. A newmitochondrial DNA mutation in ND3 gene causing severe leighsyndrome with early lethality[J]. Pediatr Res, 2004, 55(5):842-846.
-
1张天愉,蒋紫娟,曹峰,朱慧敏,管丽,李媛媛,周倩,高洁,赵莹莹.1例线粒体脑肌病合并高钾血症患者的护理体会[J].中国民康医学,2018,30(16):127-128.
-
2贾瑞,赵中华,郑麒,刘文虎.线粒体脑肌病伴高乳酸血症和卒中样发作综合征2例报道并文献复习[J].中风与神经疾病杂志,2018,35(3):248-250. 被引量：5
-
3王丽华.新思想引领新时代 新作为开创新局面[J].农电管理,2018,0(9):19-20.
-
4郭丽凤.儿童线粒体脑肌病伴乳酸酸中毒和卒中样发作综合征并发心律失常1例的护理[J].中国乡村医药,2018,25(15):64-65.
-
5杨夏鑫,孟明珠,纪坤乾,王晓棠,童丽丽,王爱芹,赵秀鹤.线粒体脑肌病伴高乳酸血症和卒中样发作中癫痫发作的临床特征[J].山东大学学报（医学版）,2018,56(5):74-80. 被引量：2
-
6杜民,叶德来,牛宝珍,段加明,岳冉,宋桃稳,王文涛,刘艳红.巨魾线粒体ND3,tRNA-Arg和ND4L基因克隆及多态性分析[J].西南大学学报（自然科学版）,2017,39(12):32-37. 被引量：2
-
7张晓辉,李晓东,杨亮,马明明.线粒体脑肌病伴高乳酸血症和卒中样发作的临床影像及病理特点[J].影像研究与医学应用,2018,2(12):27-29.
-
8白贞贞,刘赫.Alpers综合征的认识、特征及处理[J].实用糖尿病杂志,2018,14(4):6-8.
-
9曾爽艳.《DNA分子的结构》教学设计[J].考试周刊,2018,0(93):156-156.
-
10张云飞.能源革命:生态文明建设的引擎[J].国家治理,2018(33):13-21.
