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…
Psychobiological and Metabolic Correlates of Time Perception in Humans: An Exploratory Study.
Time perception-the subjective sense of how quickly or consistently time passes-shows striking variability across individuals, yet its physiological basis remains poorly understood. We hypothesized that internal clock speed and trial-to-trial variability in time perception would be linked to physiol…
Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.
Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirmed MD f…
The cGAS-STING Pathway: A Double-Edged Regulator of Neuroinflammation and Myelin Regeneration.
The cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway is a central cytosolic DNA sensor that mediates innate immunity by inducing type I interferons (IFN-I) and proinflammatory cytokines. Although its role in antiviral defense and tumor immunity has been well established, e…
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Mitochondrial CLPP has emerged as an unusual therapeutic target because both increasing and decreasing its proteolytic activity can be beneficial, depending on the cellular and disease context. Pharmacological CLPP hyperactivation drives broad degradation of mitochondrial proteins and can selectivel…
An adult case of acute encephalopathy associated with general anaesthesia and the m.11232T > C MT-ND4 variant.
We report the case of a 20-year-old woman who developed acute encephalopathy after uneventful general anesthesia with sevoflurane, propofol, and opioids. The patient presented neurological impairment followed by metabolic acidosis and hyperlactatemia and neuroimaging findings involving the basal gan…
MICOS13-Related Combined Oxidative Phosphorylation Deficiency 37: A Case Report and Systematic Review of the Literature.
Mitochondrial Contact Site and Cristae Organizing System (MICOS13)- related combined oxidative phosphorylation deficiency 37 is a rare autosomal recessive disorder caused by disruption of mitochondrial structure and function, leading to early-onset multisystem disease. Case report: A genetically con…
Phenotypic overlap masking MELAS in Turner syndrome: a diagnostic challenge.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystemic disorder that can present with diverse clinical features, including cardiomyopathy and chronic intestinal pseudo-obstruction. However, diagnosing MELAS can be challenging when its manifestations ove…