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OPA1 mutations associated with dominant optic atrophy affect mitochondrial fusion and cell death in a domain-specific manner

ABSTRACT: OPA1 mutations associated with dominant optic atrophy affect mitochondrial fusion and cell death in a domain-specific manner

PROVIDER: PRJNA1225147 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR32380248_1.fastq.gz	Fastqsanger.gz
	SRR32380248_2.fastq.gz	Fastqsanger.gz
	SRR32380249_1.fastq.gz	Fastqsanger.gz
	SRR32380249_2.fastq.gz	Fastqsanger.gz
	SRR32380250_1.fastq.gz	Fastqsanger.gz

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OPA1 mutations associated with dominant optic atrophy affect mitochondrial fusion and cell death in a domain-specific manner

Project description:Our study uncovered the role of OPA1 BSE domain in modulation of mitochondrial dynamics and cell death, and characterized the related signaling pathways, hereby providing the insight into the understanding of the domain-specific effect of OPA1 on mitochondrial morphology and function.

2025-02-24 | GSE289826 | GEO

The mitochondrial fusion protein OPA1 is dispensable in the live

Project description:Mitochondria are critical for metabolic homeostasis of the liver, and thus, mitochondrial dysfunction is a major cause of liver diseases. Optic atrophy 1 (OPA1) is a mitochondrial fusion protein that also plays a role in cristae shaping. Hence, the OPA1 gene disruption has been shown to cause mitochondrial dysfunction. However, the role of OPA1 in liver function is poorly understood. In this study, we deleted OPA1 in fully developed mouse liver and examined its effect.

2023-10-30 | PXD040556 | Pride

Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

Project description:The genetic defects leading to optic atrophy range from mitochondrial DNA (mtDNA) point mutations in LeberÃ¢Â€Â™s hereditary optic neuropathy (LHON), to dominant and recessive mutations affecting a cluster of nuclear genes implicated in mitochondrial dynamics. We performed WES in patients with an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions, to identify the genetic causes of this syndrome.

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Heart proteome in Cox10 depending on Opa1 processing

Project description:Mitochondrial fusion and fission accompany adaptive responses to stress and altered metabolic demands. Inner membrane fusion and cristae morphogenesis depends on Optic Atrophy 1 (Opa1), which is expressed in different isoforms and is cleaved from a membrane-bound, long to a soluble, short form. Here, we have analyzed the physiological role of Opa1 isoforms and Opa1 processing by generating mouse lines expressing only one cleavable Opa1 isoform or a non-cleavable variant thereof. Our results show that expression of a single cleavable or non-cleavable Opa1 isoform preserves embryonic development and the health of adult mice. Opa1 processing is dispensable under metabolic and thermal stress, but prolongs lifespan and protects against mitochondrial cardiomyopathy in OXPHOS-deficient Cox10-/- mice. Mechanistically, loss of Opa1 processing disturbs the balance between mitochondrial biogenesis and mitophagy, suppressing cardiac hypertrophic growth in Cox10-/- hearts. Our results highlight the critical regulatory role of Opa1 processing, mitochondrial dynamics and metabolism for cardiac hypertrophy.

2024-08-10 | PXD048804 | Pride

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.

Project description: Not available

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Single cell gene expression profile of WT and Opa1 knockout OT-I T cells

Project description:The goal of our study was to compare the gene expression of both naïve and activated T cells deficient in the mitochondrial protein Optic atrophy 1 (Opa1) using single cell RNA sequencing. A growing amount of evidence has begun to illustrate that the requirements driving effector- and memory-destined CD8 T cells during an infection are not shared with adjuvanted vaccine responses. Short-lived effector cells are characterized metabolically by a highly glycolytic state driving energy and biomass production whereas vaccine-elicited T cells can meet these requirements through mitochondrial metabolism. Here we show that the mitochondrial protein Optic atrophy 1 (Opa1) is critical for rapidly dividing CD8 T cells in vivo. This requirement, contrary to prior published data, is most pronounced in effector CD8 T cells. More specifically, Opa1 supports proper cell cycle initiation, progression, and supports the viability and survival of CD8 T cells during immune responses to both infections and vaccine challenges

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Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

Project description:Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficiency, whereas missense OPA1 mutations are predicted to cause disease through deleterious dominant-negative mechanisms. We used 3D imaging and biochemical analysis to explore autophagy and mitophagy in fibroblasts from seven patients harbouring OPA1 mutations. We report new genotype-phenotype correlations between various types of OPA1 mutation and mitophagy. Fibroblasts bearing dominant-negative OPA1 mutations showed increased autophagy and mitophagy in response to uncoupled oxidative phosphorylation. In contrast, OPA1 haploinsufficiency was correlated with a substantial reduction in mitochondrial turnover and autophagy, unless subjected to experimental mitochondrial injury. Our results indicate distinct alterations of mitochondrial physiology and turnover in cells with OPA1 mutations, suggesting that the level and profile of OPA1 may regulate the rate of mitophagy.

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Macrophage OPA1 maintains anti-inflammatory state and metabolic homeostasis by regulating metabolic reprogramming and mtDNA-cGAS-STING pathway

Project description:Adipose tissue macrophages (ATMs) play an important role in regulating adipose tissue inflammation and metabolic homeostasis. Mitochondria are pivotal hubs for macrophage-mediated inflammation. Here, we observed a negative correlation between macrophage optic atrophy type 1 (OPA1) and obesity in both humans and mice. Myeloid OPA1-deficient mice were susceptible to obesity and related systemic insulin resistance, glucose dysregulation, and hepatic steatosis upon high-fat diet (HFD). This is due to the impairment of M2-like macrophage features and the promotion of pro-inflammatory phenotypes. Mechanically, OPA1 loss resulted in metabolic reprogramming, as evidenced by reduced mitochondrial respiration, increased glycolysis, and elevated mtDNA release. This activated the cGAS-STING-IRF7 pathway in M2 macrophages, inducing anti-inflammatory conversion to a pro-inflammatory state. In contrast, myeloid OPA1 transgenic mice exhibited reduced inflammation and obesity. Collectively, we identified macrophage OPA1 as a novel regulator of immune metabolism. Targeting OPA1 may represent an effective therapeutic strategy against obesity and metabolic disorders.

2025-03-13 | GSE291869 | GEO

Transcriptome analysis in brown adipose tissue of mice lacking the mitochondrial protein optic atrophy 1 (OPA1) in thermogenic adipocytes

Project description:Transcriptome analysis in brown adipose tissue of mice lacking the mitochondrial protein optic atrophy 1 (OPA1) in thermogenic adipocytes

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