Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.
Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.
Nat Commun. 2017 Jun 7;8:15500. doi: 10.1038/ncomms15500.
Mutations in CHCHD2 have been identified in some Parkinson's disease (PD) cases. To understand the physiological and pathological roles of CHCHD2, we manipulated the expression of CHCHD2 in Drosophila and mammalian cells. The loss of CHCHD2 in Drosophila causes abnormal matrix structures and impaired oxygen respiration in mitochondria, leading to oxidative stress, dopaminergic neuron loss and motor dysfunction with age. These PD-associated phenotypes are rescued by the overexpression of the translation inhibitor 4E-BP and by the introduction of human CHCHD2 but not its PD-associated mutants. CHCHD2 is upregulated by various mitochondrial stresses, including the destabilization of mitochondrial genomes and unfolded protein stress, in Drosophila. CHCHD2 binds to cytochrome c along with a member of the Bax inhibitor-1 superfamily, MICS1, and modulated cell death signalling, suggesting that CHCHD2 dynamically regulates the functions of cytochrome c in both oxidative phosphorylation and cell death in response to mitochondrial stress.
CHCHD2 基因突变已在一些帕金森病(PD)病例中被发现。为了了解 CHCHD2 的生理和病理作用,我们在果蝇和哺乳动物细胞中操纵 CHCHD2 的表达。CHCHD2 在果蝇中的缺失导致线粒体基质结构异常和氧呼吸受损,导致氧化应激、多巴胺能神经元丧失和运动功能障碍随年龄增长而恶化。这些与 PD 相关的表型可通过翻译抑制剂 4E-BP 的过表达和人 CHCHD2 的引入得到挽救,但不能通过其与 PD 相关的突变体得到挽救。CHCHD2 在果蝇中受到各种线粒体应激的上调,包括线粒体基因组的不稳定和未折叠蛋白应激。CHCHD2 与细胞色素 c 结合,同时与 Bax 抑制剂-1 超家族的一个成员 MICS1 结合,并调节细胞死亡信号,表明 CHCHD2 动态调节细胞色素 c 的功能,以应对线粒体应激,在氧化磷酸化和细胞死亡中发挥作用。