Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15.
OPA1 is a GTPase that controls several functions, such as mitochondrial dynamics and energetics, mtDNA maintenance and cristae integrity. In the last years, there have been described other cellular pathways and mechanisms involving OPA1 directly or through its interaction. All this new information, by implementing our knowledge on OPA1 is instrumental to elucidating the pathogenic mechanisms of OPA1 mutations. Indeed, these are associated with dominant optic atrophy (DOA), one of the most common inherited optic neuropathies, and with an increasing number of heterogeneous neurodegenerative disorders. In this review, we overview all recent findings on OPA1 protein functions, on its dysfunction and related clinical phenotypes, focusing on the current therapeutic options and future perspectives to treat DOA and the other associated neurological disorders due to OPA1 mutations.
OPA1 是一种 GTPase，它可以控制多种功能，如线粒体动力学和能量学、mtDNA 维持和嵴完整性。在过去的几年中，已经描述了其他涉及 OPA1 的细胞途径和机制，这些途径和机制直接或通过其相互作用涉及 OPA1。所有这些新信息，通过实施我们对 OPA1 的了解，对于阐明 OPA1 突变的致病机制是至关重要的。事实上，这些突变与最常见的遗传性视神经病变之一的显性视神经萎缩（DOA）以及越来越多的异质性神经退行性疾病有关。在这篇综述中，我们概述了 OPA1 蛋白功能、功能障碍及其相关临床表型的所有最新发现，重点介绍了目前治疗 DOA 和其他由于 OPA1 突变引起的相关神经病变的治疗选择和未来前景。
