Stress-induced mitochondrial fragmentation in endothelial cells disrupts blood-retinal barrier integrity causing neurodegeneration
Mol Ther. 2025 Sep 23:S1525-0016(25)00766-X. doi: 10.1016/j.ymthe.2025.09.037. Online ahead of print. ABSTRACT Increased vascular leakage and endothelial cell (EC) dysfunction are major features of neurodegenerative diseases. Here, we investigated the mechanisms leading to EC dysregulation and asked whether altered mitochondrial dynamics in ECs impinge on vascular barrier integrity and neurodegeneration. We show that ocular hypertension, […]
Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees
J Neuroophthalmol. 2025 Sep 25. doi: 10.1097/WNO.0000000000002378. Online ahead of print. ABSTRACT BACKGROUND: C12orf65 (chromosome 12 open reading frame 65) gene encodes a mitochondrial matrix protein essential for the release of newly synthesized proteins from mitochondrial ribosomes. Biallelic pathogenic variants result in loss of function in the protein complex necessary for oxidative phosphorylation. Pathogenic C12orf65 […]
A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood
Ophthalmic Genet. 2025 Sep 24:1-6. doi: 10.1080/13816810.2025.2563909. Online ahead of print. ABSTRACT INTRODUCTION: We report the case of a 42-year-old Venezuelan woman with childhood-onset autosomal recessive retinitis pigmentosa type 90 (RP90), presenting an unusual and distinctive clinical phenotype characterized by macular pseudocoloboma, very early-onset acquired color vision disorder progressing to severe functional dyschromatopsia, and early-onset […]
LHPP Attenuates Lipid Dysfunction of Uveal Melanoma by Relieving the Histidine Phosphorylation of ACO2
Research (Wash D C). 2025 Sep 22;8:0896. doi: 10.34133/research.0896. eCollection 2025. ABSTRACT Histidine phosphorylation, the neglected but vital phosphoproteome, is a reversible posttranslational modification catalyzed by histidine kinases and erased by phosphohistidine (pHis) phosphatases (e.g., LHPP). Traditional types of phosphorylation have been implicated with the deadliest adult ocular tumor uveal melanoma (UM), which is lipid […]
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 […]
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 […]