Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation

Zanfardino, Paola; Petruzzella, Vittoria

doi:10.1080/27694127.2022.2132447

Cited by 2 publications

(1 citation statement)

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“…HTT protein mutation causes the impaired removal of dysfunctional mitochondria by mitophagy, and is related with the development of Huntington disease (HD) [51]. Impairment of autophagy is also involved in the progression of ankylosing spondylitis [52], autosomal dominant inherited sensorimotor neuropathy Charcot-Marie-Tooth disease type 2A (CMT2A) [53], neurodegenerative diseases Amytrophic Lateral Sclerosis (ALS), Alzheimer's disease (AD) [54], Leber's hereditary optic neuropathy [55], myocardial ischemia/reperfusion injury induced autosis [56], cystic fibrosis [57], Myocardial Ischemia [58], and tumorigenesis [59,60].…”

Section: The Role Of Autophagy In Liver Diseasesmentioning

confidence: 99%

Autophagy and Senescence: The Molecular Mechanisms and Implications in Liver Diseases

Li,

Lin,

Liang

et al. 2023

IJMS

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The liver is the primary organ accountable for complex physiological functions, including lipid metabolism, toxic chemical degradation, bile acid synthesis, and glucose metabolism. Liver function homeostasis is essential for the stability of bodily functions and is involved in the complex regulation of the balance between cell proliferation and cell death. Cell proliferation-halting mechanisms, including autophagy and senescence, are implicated in the development of several liver diseases, such as cholestasis, viral hepatitis, nonalcoholic fatty liver disease, liver fibrosis, and hepatocellular carcinoma. Among various cell death mechanisms, autophagy is a highly conserved and self-degradative cellular process that recycles damaged organelles, cellular debris, and proteins. This process also provides the substrate for further metabolism. A defect in the autophagy machinery can lead to premature diseases, accelerated aging, inflammatory state, tumorigenesis, and cellular senescence. Senescence, another cell death type, is an active player in eliminating premalignant cells. At the same time, senescent cells can affect the function of neighboring cells by secreting the senescence-associated secretory phenotype and induce paracrine senescence. Autophagy can promote and delay cellular senescence under different contexts. This review decodes the roles of autophagy and senescence in multiple liver diseases to achieve a better understanding of the regulatory mechanisms and implications of autophagy and senescence in various liver diseases.

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Section: The Role Of Autophagy In Liver Diseasesmentioning

confidence: 99%

Autophagy and Senescence: The Molecular Mechanisms and Implications in Liver Diseases

Li,

Lin,

Liang

et al. 2023

IJMS

View full text Add to dashboard Cite

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OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts

Zanfardino,

Amati,

Doccini

et al. 2024

Human Molecular Genetics

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In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. However, there is still limited knowledge about the specific cellular outcomes and factors involved for each gene and mutation, which contributes to the lack of effective treatments for these disorders. This study focused on fibroblasts from a patient with Autosomal Dominant Optic Atrophy (ADOA) plus syndrome harboring a mutation in the Optic Atrophy 1 (OPA1) gene. By combining functional and transcriptomic approaches, we investigated the mitochondrial function and identified cellular phenotypes associated with the disease. Our findings revealed that fibroblasts with the OPA1 mutation exhibited a disrupted mitochondrial network and function, leading to altered mitochondrial dynamics and reduced autophagic response. Additionally, we observed a premature senescence phenotype in these cells, suggesting a previously unexplored role of the OPA1 gene in inducing senescence in ADOA plus patients. This study provides novel insights into the mechanisms underlying mitochondrial dysfunction in ADOA plus and highlights the potential importance of senescence in disease progression.

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Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation

Cited by 2 publications

References 0 publications

Autophagy and Senescence: The Molecular Mechanisms and Implications in Liver Diseases

Autophagy and Senescence: The Molecular Mechanisms and Implications in Liver Diseases

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts

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