Mitochondrial defects in neurodegenerative disease.
Mitochondrial defects in neurodegenerative disease.
复制标题
神经退行性疾病中的线粒体缺陷。
DOI：
10.1002/mrdd.1023
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Wallace,DC
中科院分区：
文献类型：
--
作者：
Wallace,DC
在过去的12年里，各种神经退行性疾病都与位于线粒体DNA（mtDNA）或核DNA（nDNA）中的线粒体基因突变有关。这些疾病包括一系列非正统的遗传模式和大量的症状，从致命的新生儿多症状障碍到迟发性肌病、心肌病、运动障碍和痴呆。线粒体疾病的遗传和表型变异性的基础在于分散在人类基因组中的线粒体基因的多样性以及线粒体发挥核心作用的各种细胞途径和功能。MRDD Research Reviews 2001;7：158-166.© 2001 Wiley利斯公司
Over the past 12 years, a wide variety of neurodegenerative diseases has been linked to mutations in mitochondrial genes located in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). These disorders encompass an array of unorthodox inheritance patterns and a plethora of symptoms ranging from lethal neonatal multi‐symptom disorders to later onset myopathies, cardiomyopathies, movement disorders, and dementias. The bases for the genetic and phenotypic variability of mitochondrial diseases lie in the multiplicity of the mitochondria genes dispersed across the human genome and the variety of cellular pathways and functions in which the mitochondria play a central role. MRDD Research Reviews 2001;7:158–166. © 2001 Wiley‐Liss, Inc.