Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
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DOI：
10.1016/j.ebiom.2018.03.016
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发表时间：
2018-04
期刊：
影响因子：
11.1
通讯作者：
Prehn JHM
中科院分区：
文献类型：
--
作者：
Bano D;Prehn JHM
细胞凋亡诱导因子(AIF)是一种线粒体氧化还原酶，参与细胞死亡程序，参与呼吸链的组装。重要的是，AIF缺乏会导致严重的线粒体功能障碍，导致模式生物和人类的肌肉萎缩和神经变性。本文就AIF及其相互作用蛋白作为细胞死亡调节因子和线粒体生物能量学的功能作一综述。我们描述了AIF缺乏如何诱导改变新陈代谢并最终破坏细胞内稳态的致病过程。我们报告了目前已知的在人类中发现的AIFM1突变，并讨论了AIFM1相关疾病在发病、器官受累和症状方面的可变性。最后，我们总结了AIFM1相关病理学的研究如何有助于进一步扩大我们对罕见的遗传性线粒体疾病的理解。AIF是一种线粒体NADH依赖的氧化还原酶。AIF的核转位发生在细胞死亡过程中，并与人类疾病有关。在生理环境下，AIF参与呼吸复合体的生物发生。已在线粒体生物能量学受损的患者中发现AIFM1突变。遗传性AIFM1突变会导致多种临床表现，包括严重的儿童期起病的线粒体疾病。
Apoptosis-inducing factor (AIF) is a mitochondrial oxidoreductase that contributes to cell death programmes and participates in the assembly of the respiratory chain. Importantly, AIF deficiency leads to severe mitochondrial dysfunction, causing muscle atrophy and neurodegeneration in model organisms as well as in humans. The purpose of this review is to describe functions of AIF and AIF-interacting proteins as regulators of cell death and mitochondrial bioenergetics. We describe how AIF deficiency induces pathogenic processes that alter metabolism and ultimately compromise cellular homeostasis. We report the currently known AIFM1 mutations identified in humans and discuss the variability of AIFM1-related disorders in terms of onset, organ involvement and symptoms. Finally, we summarize how the study of AIFM1-linked pathologies may help to further expand our understanding of rare inherited forms of mitochondrial diseases. AIF is a mitochondrial NADH-dependent oxidoreductase. Nuclear translocation of AIF occurs during cell death and has been associated with human disorders. Under physiological settings, AIF participates to the biogenesis of the respiratory complexes. AIFM1 mutations have been identified in patients with impaired mitochondrial bioenergetics. Inherited AIFM1 mutations lead to a variety of clinical manifestations, including severe childhood-onset mitochondrial diseases.
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影响因子：
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作者：
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