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Mitochondrial Disease

236 papers & discussions

A group of disorders caused by dysfunctional mitochondria, affecting energy production in multiple organ systems.

Severe fatigueMuscle weaknessExercise intoleranceCognitive difficultiesGI problemsSeizures

Research

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PubMed

Ligustrazine Alleviates Nitroglycerin-Induced Migraine by Regulating Mitochondrial Energy Metabolism Through the Concurrent Regulation of CypD, ANT, and PAR2.

To investigate the protective effects of ligustrazine (Lig) against nitroglycerin (NTG)-induced migraine and explore its underlying mechanisms, with a particular focus on mitochondrial energy metabolism and the coordinated regulation of protease-activated receptor 2 (PAR2), cyclophilin D (CypD), and…

msmigrainemitochondrial disease
PubMed

Purine availability determines survival of complex I-deficient fibroblasts under OXPHOS-reliant condition.

Growing fibroblasts in medium containing galactose instead of glucose makes cells more dependent on oxidative phosphorylation (OXPHOS) rather than glycolysis. Recently, it has been shown that treatment with nicotinamide adenine dinucleotide (NAD+) improves cell viability of human OXPHOS Complex I-de…

mitochondrial disease
PubMed

Age, metabolites, and diagnostic discrimination in mitochondrial disease.

mitochondrial disease
PubMed

Small molecules rescue pathogenic POLGA aggregation and restore its functions in a mouse model of PEO.

POLGA, the catalytic subunit of the mitochondrial DNA polymerase, is essential for mitochondrial DNA (mtDNA) replication and maintenance. Mutations in POLGA cause progressive external ophthalmoplegia (PEO), but the underlying pathogenic mechanisms remain unclear. Here, we show that the mitochondrial…

mitochondrial disease
PubMed

Modulating the Gut-Ovarian Axis: Mechanistic Rationale and the Limits of Current Evidence for Probiotics in Female Reproductive Aging.

Female reproductive aging is characterized by progressive follicular depletion, deterioration of oocyte quality, and endocrine decline, with oxidative stress, mitochondrial dysfunction, immune-inflammatory remodeling, and granulosa-cell loss contributing to ovarian functional deterioration. This cri…

pcosmitochondrial disease
PubMed

Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.

Short-chain enoyl-CoA hydratase 1 (SCEH) deficiency, caused by biallelic ECHS1 variants, is a rare inborn error of mitochondrial valine catabolism with poorly defined genotype-phenotype correlations and survival predictors. A systematic review was conducted using PubMed and Scopus with supplementary…

mitochondrial disease
PubMed

A case of severe enteritis following CapeOX therapy in a postoperative rectal cancer patient with m.3243A>G-associated mitochondrial disease.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder characterized by impaired oxidative phosphorylation and reduced ATP production, resulting in increased organ vulnerability to metabolic stress. Fluoropyrimidine agents, such a…

mitochondrial disease
PubMed

Maternal Metabolic Dysfunction and Uteroplacental Adaptation in Polyendocrine Metabolic Ovarian Syndrome Pregnancy.

Polyendocrine metabolic ovarian syndrome (PMOS), formerly known as polycystic ovary syndrome (PCOS), is a multisystem endocrine-metabolic disorder that significantly increases the risk of adverse pregnancy outcomes, partly independently of obesity. PMOS patients frequently exhibit a characteristic m…

pcosmitochondrial disease

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