Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene. [5] [6] This protein regulates mitochondrial fusion and cristae structure in the inner mitochondrial membrane (IMM) and contributes to ATP synthesis and apoptosis, [7] [8] [9] and small, round mitochondria. [10]

The OPA1 gene provides instructions for making a protein that is found in cells and tissues throughout the body. The OPA1 protein is active in the inner membrane of cell structures called mitochondria, which are the energy-producing centers in cells.

2024年12月25日 · OPA1 (OPA1 Mitochondrial Dynamin Like GTPase) is a Protein Coding gene. Diseases associated with OPA1 include Behr Syndrome and Mitochondrial Dna Depletion Syndrome 14. Among its related pathways are Programmed Cell Death and Regulation of activated PAK-2p34 by proteasome mediated degradation.

Three major mouse models have been created to model OPA1 DOA: Opa1 +/del , Opa1 +/STOP , and Opa1 +/delTTAG . Zebrafish and Drosophila are also useful model organisms that have been used to explore DOA pathogenesis ( 86 – 88 ), and the uses of each have been previously reviewed ( 27 ).

2019年9月24日 · Our results demonstrated that overexpression of OPA1 alleviates prion-associated mitochondrial network fragmentation and cristae remodeling, mitochondrial dysfunction, mtDNA depletion, and...

2016年6月15日 · OPA1 governs the delicate balance between fusion and fission in the dynamic mitochondrial network. A disturbance of this balance, often observed under stress and pathologic conditions, causes mitochondrial fragmentation and can ultimately result in cell death.

OPA1 is a dynamin-related GTPase that controls mitochondrial dynamics, cristae integrity, energetics and mtDNA maintenance. The exceptional complexity of this protein is determined by the presence, in humans, of eight different isoforms that, in turn, are proteolytically cleaved into combinations of …

2022年8月6日 · Optic atrophy 1 (OPA1) regulates IMM fusion, prevents apoptosis, and is a key regulator of morphological change in skeletal and cardiac muscle physiology and pathophysiology. OPA1 fuses the inner membranes of adjacent mitochondria, allowing for an increase in oxidative phosphorylation (OXPHOS).

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.

2023年12月20日 · OPA1 is a rare genetic disorder characterized by the degeneration of the optic nerve, leading to progressive vision loss. This condition can manifest in childhood or adulthood and often leads to blindness.

2007年8月27日 · The dynamin-related protein Opa1 is localized to the mitochondrial intermembrane space, where it facilitates fusion between mitochondria. Apoptosis causes Opa1 release into the cytosol and causes mitochondria to fragment.

2018年5月1日 · 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 …

2024年8月13日 · Optic atrophy 1 (OPA1) is a mitochondrial dynamin-like GTPase that controls mitochondrial morphogenesis, fusion, and energetics. Here, we report that human and mouse cells lacking OPA1 are markedly resistant to ferroptosis.

In this study, we show that this inducible cleavage is mediated by a zinc metalloprotease called OMA1. We find that OMA1 small interfering RNA inhibits inducible cleavage, helps retain fusion competence, and slows the onset of apoptosis, showing …

Abstract: Dominant optic atrophy (DOA) is the most commonly inherited optic neuropa-thy. The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion. OPA1 has been shown to regulate mitochondrial dynamics and promote fusion.

OPA1 mediates inner mitochondrial membrane dynamic reshaping, and mutations affecting this protein cause autosomal dominant optic atrophy (ADOA), a leading cause of inherited blindness. This study explored OPA1 GTPase and GTPase effector domain (GED) mutants. The domain-specific OPA1 mutants exhibited distinctive ultrastructural cristae defects.

Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve.

2015年12月4日 · Proteolytic processing of the dynamin-like guanosine triphosphatase (GTPase) OPA1 in the inner membrane of mitochondria is emerging as a critical regulatory step to balance mitochondrial fusion and fission. Two mitochondrial proteases, OMA1 and the AAA protease YME1L, cleave OPA1 from long (L-OPA1) to short (S-OPA1) forms.

2022年9月1日 · OPA1 loss activates a glutathione (GSH)-redox signaling pathway promoting cell-cycle progression, myogenic gene expression, and commitment. MuSCs with chronic OPA1 loss, leading to mitochondrial dysfunction, continue to reside in …

2004年4月30日 · The human homologue of Mgm1 is called OPA1. Mutations in the OPA1 gene are the prevailing cause of dominant optic atrophy, a hereditary disease in which progressive degeneration of the optic nerve can lead to blindness. Here we investigate the properties of the Mgm1/OPA1 protein in mammalian cells.