Expert consensus on clinical genome sequencing interpretation and reporting
Yi Chuan. 2025 Mar;47(3):314-328. doi: 10.16288/j.yczz.24-296. ABSTRACT Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual’s nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for […]
SIRT3 mitigates dry eye disease through the activation of autophagy by deacetylation of FOXO1
Exp Eye Res. 2025 Mar 8:110328. doi: 10.1016/j.exer.2025.110328. Online ahead of print. ABSTRACT Dry eye disease (DED) is a complex ocular condition characterized by oxidative stress, inflammation, and apoptosis. An increasing number of studies suggest that Sirtuin3 (SIRT3), a mitochondrial deacetylase, may offer protection against related pathologies. Despite these indications, the precise function and underlying […]
Leber’s Hereditary Optic Neuropathy with Retinal Hemorrhage
Neuroophthalmology. 2024 Aug 19;49(2):127-131. doi: 10.1080/01658107.2024.2389957. eCollection 2025. ABSTRACT Leber’s hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage […]
Nutrient supplementation mitigates retinal dysfunction in Acox1 knockout mice with impaired peroxisomal fatty acid oxidation
J Adv Res. 2025 Mar 4:S2090-1232(25)00145-6. doi: 10.1016/j.jare.2025.03.004. Online ahead of print. ABSTRACT INTRODUCTION: Dyslipidemia contributes to many retinal diseases, but underlying lipid processing pathways are not fully understood. Peroxisomes oxidize very long-chain fatty acids and generate docosahexaenoic acid (DHA). Mutations in peroxisomal genes can result in severe neural retinal dysfunction. However, therapeutic approaches for […]
Sensitive organelles of U251 MG glioblastomas to boron neutron capture therapy
Int J Radiat Biol. 2025 Mar 6:1-9. doi: 10.1080/09553002.2025.2473978. Online ahead of print. ABSTRACT PURPOSE: The micro-distribution of boron compounds within cells influences the effectiveness of boron neutron capture therapy (BNCT) in killing tumor cells. Boron neutron capture therapy-sensitive organelles within the range of α particles and 7Li recoil nuclei can enhance killing effects on […]
Isolated Mitochondrial Transplantation as a Novel Treatment for Corneal Chemical Burns
Invest Ophthalmol Vis Sci. 2025 Mar 3;66(3):14. doi: 10.1167/iovs.66.3.14. ABSTRACT PURPOSE: This study aimed to investigate the therapeutic potential of isolated mitochondrial transplantation for the restoration of corneal surface injury in mice after corneal chemical burn. METHODS: Mitochondria were isolated from mesenchymal stem cells via ultracentrifugation, followed by an assessment of their purity and viability. […]
Molecular Mechanisms Limiting the Therapeutic Window of AAV Gene Therapy in Mouse Models of Blue Cone Monochromacy
bioRxiv [Preprint]. 2025 Feb 16:2025.02.14.638316. doi: 10.1101/2025.02.14.638316. ABSTRACT Blue cone monochromacy (BCM) is an X-linked retinal disorder caused by mutations in the OPN1LW/OPN1MW gene locus, resulting in impaired cone function and structural degeneration. We conducted a comparative analysis of AAV-mediated gene therapy in Opn1lw/Opn1mw double knockout (DKO) and Opn1mw C198R /Opn1sw -/- (C198R) BCM mouse […]
Impact of POU3F4 mutation on cochlear development and auditory function
Cell Commun Signal. 2025 Mar 5;23(1):121. doi: 10.1186/s12964-025-02133-y. ABSTRACT BACKGROUND: Hearing loss, a major public health issue, affects 1.33 per 1,000 live births worldwide. Genetic factors contribute to over half of congenital cases, with X-linked inheritance accounting for 1-5%. POU3F4 mutations are associated with approximately 50% of X-linked non-syndrome hearing loss cases. POU3F4 plays a […]
Small molecule kinase inhibitor altiratinib inhibits brain cyst forming bradyzoites of Toxoplasma gondii
J Microbiol. 2025 Feb;63(2):e2409001. doi: 10.71150/jm.2409001. Epub 2025 Feb 27. ABSTRACT Chronic toxoplasmosis is caused by Toxoplasma gondii bradyzoites. This study assessed six candidate small molecule kinase inhibitors (SMKIs) against bradyzoites (ME49 strain), the reactivated form of the parasite resulting from the rupture of brain cysts. Bradyzoites were obtained from mouse brain cysts, cultured in […]
Vitamin A treatment restores vision failures arising from Leber’s hereditary optic neuropathy-linked mtDNA mutation
JCI Insight. 2025 Mar 4:e188962. doi: 10.1172/jci.insight.188962. Online ahead of print. ABSTRACT Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal cell-specific effects of LHON-linked mtDNA mutations remains poorly understood and there has been no effective treatment or cure for this disorder. […]