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Mitochondrial Disease

19 papers & discussions

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

Severe fatigueMuscle weaknessExercise intoleranceCognitive difficultiesGI problemsSeizures

Research

19
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PubMed

Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.

Exercise has been demonstrated to be effective in the general population and in a small number of Primary Mitochondrial Disease (PMD) human studies, raising the potential of exercise as standard of care in PMD. However, standardized exercise prescriptions have not been established in this heterogene…

mslichen sclerosusmitochondrial disease
PubMed

Myricetin attenuates experimental autoimmune prostatitis and inflammatory and oxidative injury in LPS-induced RWPE-1 cells potentially through modulation of MAPK/STAT3/NF-κB/Nrf2 signaling pathway.

Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a prevalent urological condition marked by ongoing pelvic pain, inflammation, and a reduced quality of life. Increasing evidence indicates that dysregulated immune responses and oxidative stress contribute to CP/CPPS pathogenesis. Myricet…

chronic painpelvic painlichen sclerosusmitochondrial disease
PubMed

A Novel Combination of Biallelic Variants in the VARS2 Gene: A Severe Phenotype.

To our knowledge, only 29 individuals have been described in the literature with biallelic pathogenic variants in the valyl-tRNA synthetase 2 (VARS2) gene, responsible for changes in the mitochondrial respiratory chain complex. We report two siblings with a novel combination of biallelic variants in…

lichen sclerosusmitochondrial disease
PubMed

The crosslink between autophagy and ferroptosis in polycystic ovary syndrome: from synergistic pathogenesis to targeted therapy.

Polycystic ovary syndrome (PCOS) is a highly heterogeneous endocrine-metabolic disorder whose core pathological features-follicular atresia and ovulatory dysfunction-are attributed to functional failure of ovarian granulosa cells (GCs). Although autophagy (a cellular quality-control mechanism) and f…

mspcoslichen sclerosusthoracic outlet syndrome
PubMed

Repeated intravesical platelet-rich plasma injections alleviate symptoms via T-cell modulation and mitochondrial dysfunction in non-ulcer interstitial cystitis/bladder pain syndrome.

Repeated intravesical injections of autologous platelet-rich plasma (PRP) have shown promise in alleviating symptoms of non-ulcer interstitial cystitis bladder pain syndrome (IC/BPS), but the underlying mechanisms remain unclear. In this single-center prospective study, 80 patients received four mon…

mschronic paininterstitial cystitisrelapsing polychondritis
PubMed

Deficient TRPM3-linked mitochondrial Ca2+ influx in natural killer cells associated with myalgic encephalomyelitis/chronic fatigue syndrome.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a multisystemic illness, commonly associated with dysregulation of the immune system including reduced cytotoxicity of natural killer (NK) cells and post-exertional neuroimmune exhaustion. Previously, transient receptor potential melasta…

me cfsmschronic fatiguelichen sclerosus
PubMed

Reframing ME/CFS: toward a unified mechanistic model of chronic post-infectious diseases.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a severe multisystem illness marked by post-exertional malaise (PEM), cognitive dysfunction, autonomic disturbance, and impaired physiological resilience. Historically, the absence of validated biomarkers, heterogeneous definitions, and…

me cfsmschronic fatiguelong covid
PubMed

Higher-order structural organization of mitochondrial metabolism.

The mitochondrion embeds numerous metabolic, biosynthetic, and signaling pathways occurring within its specialized compartments that collectively define eukaryotic biology. To visualize these, cryogenic electron microscopy (cryo-EM) is now utilized, particularly for resolving biomolecular complexes…

mslichen sclerosusmitochondrial disease

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