Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers–Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways DOI Creative Commons

Purusha Shirvani,

Arash Shirvani, Michael F. Holick

et al.

Current Issues in Molecular Biology, Journal Year: 2025, Volume and Issue: 47(2), P. 134 - 134

Published: Feb. 19, 2025

Hypermobile Ehlers–Danlos Syndrome (hEDS) is a hereditary connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and systemic manifestations such as chronic fatigue, gastrointestinal dysfunction, neurological symptoms. Unlike other EDS subtypes with known genetic mutations, hEDS lacks definitive markers, suggesting multifactorial etiology involving both mitochondrial dysfunction non-mitochondrial pathways. This scoping review, conducted in accordance the PRISMA-ScR guidelines, highlights potential unifying mechanism pathophysiology. Impaired oxidative phosphorylation (OXPHOS), elevated reactive oxygen species (ROS) levels, calcium dysregulation disrupt cellular energetics extracellular matrix (ECM) homeostasis, contributing to hallmark features of hEDS. We reviewed candidate genes associated ECM remodeling, signaling pathways, immune regulation. Protein–protein interaction (PPI) network analyses revealed interconnected pathways linking these genes. Comparative insights from Fabry disease fragile X premutation carriers underscore shared mechanisms RNA toxicity, metalloproteinases (MMP) activation, degradation. These findings may suggest that amplifies through its interplay molecular By integrating perspectives, this review provides framework for understanding pathogenesis while highlighting latent avenues future research into basis. Understanding role not only sheds light on complex but also opens new paths targeted interventions.

Language: Английский

Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers–Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways DOI Creative Commons

Purusha Shirvani,

Arash Shirvani, Michael F. Holick

et al.

Current Issues in Molecular Biology, Journal Year: 2025, Volume and Issue: 47(2), P. 134 - 134

Published: Feb. 19, 2025

Hypermobile Ehlers–Danlos Syndrome (hEDS) is a hereditary connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and systemic manifestations such as chronic fatigue, gastrointestinal dysfunction, neurological symptoms. Unlike other EDS subtypes with known genetic mutations, hEDS lacks definitive markers, suggesting multifactorial etiology involving both mitochondrial dysfunction non-mitochondrial pathways. This scoping review, conducted in accordance the PRISMA-ScR guidelines, highlights potential unifying mechanism pathophysiology. Impaired oxidative phosphorylation (OXPHOS), elevated reactive oxygen species (ROS) levels, calcium dysregulation disrupt cellular energetics extracellular matrix (ECM) homeostasis, contributing to hallmark features of hEDS. We reviewed candidate genes associated ECM remodeling, signaling pathways, immune regulation. Protein–protein interaction (PPI) network analyses revealed interconnected pathways linking these genes. Comparative insights from Fabry disease fragile X premutation carriers underscore shared mechanisms RNA toxicity, metalloproteinases (MMP) activation, degradation. These findings may suggest that amplifies through its interplay molecular By integrating perspectives, this review provides framework for understanding pathogenesis while highlighting latent avenues future research into basis. Understanding role not only sheds light on complex but also opens new paths targeted interventions.

Language: Английский

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