A group of disorders caused by dysfunctional mitochondria, affecting energy production in multiple organ systems.
✦ AI summary
Research describes mitochondrial disease as a group of genetically diverse disorders, caused by mutations in either mitochondrial or nuclear DNA, that impair the mitochondria's ability to produce cellular energy (oxidative phosphorylation), leading to a wide and variable range of symptoms across patients; no curative treatments currently exist, though some experimental and metabolic approaches are being studied [2]. Some specific genetic causes have been identified, such as a gene variant (MIPEP) linked to impaired processing of mitochondrial proteins, which in one patient was associated with developmental delay, seizures, and low muscle tone [3]. Diagnosis can be tricky because the proportion of mutated mitochondrial DNA (heteroplasmy) varies by tissue; research shows that urine samples often detect higher levels of a common disease-causing variant (m.3243A>G) than blood samples, suggesting urine testing may improve detection in some cases, though blood testing remains suitable for other specific variants [10]. There is also emerging interest in how the structure of mitochondrial RNA molecules affects gene expression and how disruptions in this process might contribute to mitochondrial disease, which could inform future diagnostic or treat
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Severe fatigueMuscle weaknessExercise intoleranceCognitive difficultiesGI problemsSeizures
Anticancer effects of tangeretin associated with reactive oxygen species generation, mitochondrial dysfunction and apoptosis in CaSki cells.
Cervical cancer is the fourth most common cancer and the fourth leading cause of cancer‑related mortality among women worldwide. Tangeretin (TAN), a polymethoxylated flavonoid derived from citrus fruit peel, exhibits relatively high structural stability due to its methoxy groups and exerts anticance…
Mitochondrial disease: mechanisms, signalling, and therapeutic opportunities.
Mitochondria are central hubs of cellular metabolism and signalling, and their dysfunction underlies a broad spectrum of human diseases, including rare mitochondrial disorders as well as common neurodegenerative and metabolic conditions. Mitochondrial diseases are genetically heterogeneous disorders…
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…
WIPButyrate produced by the Lycium ruthenicum polysaccharide alleviated sleep deprivation-induced chronic fatigue syndrome in mice through promoting microglial autophagy.
This study explored whether Lycium ruthenicum polysaccharide (LRP) influences gut microbiota-derived short-chain fatty acids (SCFAs) and neuroinflammatory responses in a sleep deprivation-induced CFS-like mouse model. Oral LRP was associated with improved fatigue-related behavioral performance, redu…
me cfslupuschronic fatiguerelapsing polychondritis
Targeting the AMPK signalling pathway: Honokiol modulated energy metabolism to mitigate pulmonary injury induced by airborne microplastics through regulating autophagy and mitophagy.
Microplastics (MPs) pollution represents a pressing global environmental challenge, with studies increasingly highlighting their associated health risks. Although MPs have been detected in human lung tissues, the majority of existing research has concentrated on their physicochemical characteristics…
Progressive mitochondrial and autophagic dysfunction during RGC development driven by a LHON-associated mitochondrial tRNAThr mutation.
Leber's hereditary optic neuropathy (LHON) is a genetically inherited disease of the eye triggered by mtDNA mutations, leading to degeneration of RGCs. We previously reported that the mitochondrial tRNAThr (MT-TT) 15927G > A homoplasmic mutation disrupted the base pairing (28C-42G) conserved in the…
Computational Modeling of Substrate-Dependent Lung Mitochondrial Respiration and Bioenergetics in Rats with Different Susceptibility to Hyperoxia-Induced ARDS.
Prolonged exposure to high oxygen levels (hyperoxia) is unavoidable in managing severe Acute Respiratory Distress Syndrome (ARDS), but can itself worsen lung injury and increase mortality. Rats conditioned to be hyperoxia-tolerant (H-T) or hyperoxia-susceptible (H-S) provide a system for assessing t…
Molecular and cellular mechanisms of lead-induced neurotoxicity: comparative insights from rodent and zebrafish models.
Lead is a persistent environmental heavy metal and a potent neurotoxin that continues to threaten global public health despite regulatory restrictions. Chronic and developmental exposure, particularly during early life, leads to persistent structural and functional disturbances in the central nervou…