Retinal vasculitis associated with type M2 antimitochondrial antibodies
Retin Cases Brief Rep. 2025 Sep 22. doi: 10.1097/ICB.0000000000001809. Online ahead of print. ABSTRACT PURPOSE: We report a case of bilateral retinal vasculitis in a patient with type M2 antimitochondrial antibodies (AMA-M2). METHOD: Observational case report. RESULTS: A 35-year-old female presented with photopsia without reduction in visual acuity in either eye. Ocular examination revealed bilateral […]
Inhibition of BCL-2 and MCL-1 disrupts mitochondrial respiration and overcomes radioresistance in choroidal melanoma
Biochem Biophys Res Commun. 2025 Sep 14;784:152650. doi: 10.1016/j.bbrc.2025.152650. Online ahead of print. ABSTRACT Choroidal melanoma is the most common primary intraocular malignancy in adults. Radioresistance is a major therapeutic obstacle in choroidal melanoma with underlying mechanisms poorly understood. In this study, we established radioresistant OCM-3-r and 92-1-r cell lines and identified upregulation of BCL-2 […]
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation
Int J Neonatal Screen. 2025 Sep 6;11(3):76. doi: 10.3390/ijns11030076. ABSTRACT Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel. It is caused by mutations in the ACAT1 gene, which encodes the mitochondrial acetyl-CoA acetyltransferase. Its deficiency impairs the degradation of isoleucine […]
Enhancing cardiac serine biosynthesis mitigates the progression of dilated cardiomyopathy
Metabolism. 2025 Sep 18:156395. doi: 10.1016/j.metabol.2025.156395. Online ahead of print. ABSTRACT Genetic dilated cardiomyopathy (DCM) is a leading cause of heart failure. However, disease-modifying therapies remain limited. Metabolic dysfunction has emerged as a key driver of DCM pathogenesis, and impaired serine biosynthesis, catalyzed by the rate-limiting enzyme phosphoglycerate dehydrogenase (PHGDH), has recently been identified as […]
Phytic acid protects corneal endothelium from UVA induced ferroptosis
Exp Eye Res. 2025 Sep 17:110647. doi: 10.1016/j.exer.2025.110647. Online ahead of print. ABSTRACT Corneal endothelial decompensation is a common vision-threatening disease, with a diverse range of pathogenic factors, ultimately necessitating corneal transplantation. Corneal endothelial cells (CECs) act as a barrier between the aqueous humor and stroma, and are non-proliferative in vivo. CECs are susceptible to […]
Specialised features of melanosomes in health and disease in the retinal pigment epithelium
Front Cell Dev Biol. 2025 Sep 3;13:1593840. doi: 10.3389/fcell.2025.1593840. eCollection 2025. ABSTRACT This mini-review focuses on melanosome biogenesis, positioning and function in the retinal pigment epithelium (RPE) where melanosomes absorb light scatter and protect against the harmful effects of photo-oxidation. RPE melanosomes share a common biogenesis pathway with those of skin melanocytes but are made […]
Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants
Front Neurol. 2025 Sep 1;16:1584748. doi: 10.3389/fneur.2025.1584748. eCollection 2025. ABSTRACT PURPOSE: This study aimed to explore the role of additional mitochondrial DNA (mtDNA) variants in the development of Leber hereditary optic neuropathy (LHON) by screening the entire mitochondrial genome in individuals who had previously tested negative for the three common mtDNA variants: m.3460G > A […]
Mitochondrial oxidative stress, cellular damages and stem cell aging in premature aging models with complex II electron transport defect
J Clin Biochem Nutr. 2025 Sep 1;77(2):101-112. doi: 10.3164/jcbn.25-62. Epub 2025 Jul 2. ABSTRACT Mitochondria which are the major intracellular reactive oxygen species (ROS) sources produce especially superoxide anion (O2 •-) as a byproduct of energy production. It has been well known that O2 •- is converted from oxygen (O2) and is overproduced by excessive […]
Role of mitochondrial dysfunction in ocular surface diseases
Cell Stress. 2025 Aug 5;9:174-181. doi: 10.15698/cst2025.08.309. eCollection 2025. ABSTRACT The dysfunction of mitochondria, the “energy factories” of cells, not only causes an insufficiency of energy production but also leads to various pathological alterations in cells such as the accumulation of reactive oxygen species, inflammatory responses and mitochondrial DNA damage, all of which were involved […]
Early-life inflammation increases aggressive behavior in adult male mice through an astrocyte-neuron signaling
Mol Psychiatry. 2025 Sep 16. doi: 10.1038/s41380-025-03260-1. Online ahead of print. ABSTRACT Accumulating research has demonstrated a significant association between early-life inflammation and behavioral disorders later in life. However, the effects of early-life inflammation on aggressive behavior in adulthood remain poorly understood. Here, we show that early-life inflammation induced by lipopolysaccharide (LPS) upregulated neuronal dynamin-related […]