线粒体基因组变异与衰老和疾病

发布时间：2018-04-11 09:30

本文选题：线粒体基因组 + 变异　；参考：《中国老年保健医学》2016年06期

【摘要】：线粒体基因组的遗传特点呈母系传递。线粒体有自己独立的基因组,并且线粒体DNA(mt DNA)具有与核基因组不同的结构和代码,mt DNA基因组编码可产生部分线粒体呼吸链的多肽蛋白。如果mt DNA发生突变,依照其表型受累的程度,可将其归类为:1严重程度,为罕见、高遗传(保守)性的因果性突变,常引起一系列神经系统、肌肉、心脏和内分泌器官严重的人类单基因疾病;2中等程度或轻度突变,常引起常见的复杂性疾病和迟发性及老年相关疾病,如帕金森氏病和阿尔兹海默病。另外,多数健康人也会带有低水平(1%)的mt DNA点突变,包括先天遗传性突变和后天获得性突变。其中随着获得性突变数量的增加,当超过特定阈值水平时,会导致老年相关疾病的发生。本文内也依据现有模式生物的研究结果,提供有人们对mt DNA突变机制的新知识。
[Abstract]:The genetic characteristics of mitochondrial genome are maternal transmission.Mitochondria have their own independent genome, and the mitochondrial DNA(mt DNA) has a different structure and code from the nuclear genome. The mt DNA genome encodes polypeptide proteins that produce part of the mitochondrial respiratory chain.If Mt DNA mutates, according to the degree of phenotypic involvement, it can be classified as the severity of 1: 1, which is a rare, highly hereditary (conservative) causality mutation, often causing a series of nervous system, muscle,A moderate or mild mutation in a human monogenic disease with severe heart and endocrine organs often causes common complex diseases and delayed and geriatric related diseases such as Parkinson's disease and Alzheimer's disease.In addition, most healthy people will also have a low level of Mt DNA point mutations, including congenital genetic mutations and acquired mutations.As the number of acquired mutations increases, when the threshold level is exceeded, it will lead to the occurrence of geriatric diseases.Based on the results of existing model organisms, new knowledge of Mt DNA mutation mechanism is provided in this paper.
【作者单位】：广西壮族自治区江滨医院;广西医科大学病理生理学教研室;北京医院国家老年医学中心卫生部老年医学重点实验室;
【基金】：国家高技术研究发展计划(863计划)项目子课题基金(基金编号2014AA022304) 国家自然科学基金(81061120527,81370445,81472408) 国家科技部十二五支撑计划项目(2012BAI10B01,2015BAI06B03)
【分类号】：R3416

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