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线粒体DNA序列变异与神经退行性变

Mitochondrial DNA sequence variation and neurodegeneration.

作者信息

Mancuso Michelangelo, Filosto Massimiliano, Orsucci Daniele, Siciliano Gabriele

机构信息

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy.

出版信息

Hum Genomics. 2008 Sep;3(1):71-8. doi: 10.1186/1479-7364-3-1-71.

DOI:10.1186/1479-7364-3-1-71
PMID:19129091
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3525185/
Abstract

Mitochondria, the powerhouse of the cell, play a critical role in several metabolic processes and apoptotic pathways. Many lines of evidence suggest that mitochondria have a central role in ageing-related neurodegenerative diseases. Moreover, there is a long history of investigations on mitochondria aimed at identifying genetic markers relating to ageing and neurodegenerative diseases. In this review, some of the major neurodegenerative disorders are highlighted and the role of mitochondrial haplogroups in the pathogenetic cascade leading to these diseases is discussed.

摘要

线粒体,即细胞的动力源,在多个代谢过程和凋亡途径中发挥着关键作用。许多证据表明,线粒体在与衰老相关的神经退行性疾病中起着核心作用。此外,针对线粒体的研究历史悠久,旨在识别与衰老和神经退行性疾病相关的遗传标记。在这篇综述中,重点介绍了一些主要的神经退行性疾病,并讨论了线粒体单倍群在导致这些疾病的发病级联反应中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a768/3525185/32b50dec3c59/1479-7364-3-1-71-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a768/3525185/32b50dec3c59/1479-7364-3-1-71-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a768/3525185/32b50dec3c59/1479-7364-3-1-71-1.jpg

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Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
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