《生命科学》 2012, 24(2): 198-204

线粒体疾病小鼠模型的建立及病理生理学研究

方　芳¹，管敏鑫^1，2*

(1温州医学院，Attardi线粒体生物医学研究院和浙江省医学遗传学重点实验室，温州 325035；2 浙江大学生命科学学院，杭州 310058)

摘　要：摘　要：线粒体疾病是机体ATP 合成障碍、供能不足引起的多系统疾病。近十年来，随着线粒体疾病小鼠模型的不断建立和完善，发现核DNA (nuclear DNA，nDNA) 或( 和) 线粒体DNA (mitochondrial DNA，mtDNA) 突变造成线粒体氧化磷酸化功能缺陷是其发病的主要原因。将着重介绍线粒体氧化磷酸化功能缺陷导致线粒体疾病的小鼠模型的建立及其病理生理学特点。
关键词：线粒体疾病；氧化磷酸化缺陷；小鼠模型；突变

Mouse models of mitochondrial disease and their pathophysiology

FANG Fang¹， GUAN Min-Xin^1，2*

(1 Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics， Wenzhou Medical College， Wenzhou 325035， China; 2 College of Life Sciences， Zhejiang University， Hangzhou 310058， China)

Abstract: Abstract: Mitochondrial disease is a kind of multi-system disease， resulting from energy shortage by ATP synthesis defect. As the development of mitochondrial disease mouse model during the past decade， nuclear DNA or (and) mitochondrial DNA mutations have been confirmed to be the main reasons to cause defects in mitochondrial oxidative phosphorylation for the diseases. In this review， we will focus on the characteristic of the mitochondrial disease mouse models and their pathophysiology.
Key words: mitochondrial diseases; oxidative phosphorylation defects; mouse model; mutation