Redox biology in PCOS: Biomarkers, mechanistic networks, and targeted interventions (Review).
Polycystic ovary syndrome (PCOS) is a lifelong endocrine‑metabolic disorder affecting 11‑13% of women worldwide. Beyond ovulatory dysfunction, hyperandrogenism, and polycystic ovarian morphology, PCOS is tightly linked to insulin resistance, dyslipidemia, hypertension, and increased ca…
Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.
The mitochondrial intermediate peptidase (MIP) catalyzes the post-import removal of an N-terminal octapeptide from a subset of nuclear-encoded mitochondrial proteins. While the mechanistic role of this processing remains unclear, biallelic MIPEP variants have been linked to respiratory chain dysfunc…
Biallelic SCO2 Variants Presenting as Motor-Predominant Axonal Neuropathy With Complex IV Deficiency.
SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor-predominant axonal neuropathy presentation associated with biallelic SCO2 variants. Clinical, genetic, a…
The role of mitochondrial dysfunction and genetics in female infertility and premature ovarian insufficiency.
Female infertility occurs in ∼37% of infertile couples, while premature ovarian insufficiency (POI) impacts 1-3.7% of women under the age of 40. POI is clinically heterogeneous, with various genetic pathways associated with its pathogenesis. Mitochondrial diseases (MDs) are a broad group of c…
Cepharanthine Reduces Endometriosis Lesions and Alters Mitochondrial and Autophagy-Related Signals in Endometriotic Stromal Cells.
Endometriosis is a chronic inflammatory disorder characterized by the ectopic growth of endometrial-like tissue, leading to pelvic pain and infertility. Although cepharanthine has well-established anti-inflammatory properties, its therapeutic potential and underlying mechanisms in endometriosis rema…
[Research progress on acupuncture and moxibustion in regulating mitochondrial function for chronic fatigue syndrome].
Chronic fatigue syndrome (CFS) is a neurological disorder primarily characterized by persistent fatigue, post-exertional malaise, and cognitive dysfunction. Mitochondrial dysfunction is considered as a core mechanism underlying its pathological changes. Acupuncture and moxibustion therapy has been s…
Disease-mutations perturb proton transfer reactions in respiratory complex I.
Respiratory Complex I powers oxidative phosphorylation by a long-range proton-coupled electron transfer (PCET) reaction, with mutations linked to more than half of all human mitochondrial disorders. Yet, the molecular principles underlying the functional impairment remain difficult to test, as most…