Targeting cGAS-STING signaling protects retinal ganglion cells from DNA damage-induced cell loss and promotes visual recovery in glaucoma
Aging (Albany NY). 2024 Jun 6;16. doi: 10.18632/aging.205900. Online ahead of print. ABSTRACT BACKGROUND: Glaucoma is an optic neurodegenerative disease. Retinal ganglion cells (RGCs) are the fundamental neurons in the trabecular meshwork, and their loss is the main pathological reason for glaucoma. The present study was to investigate mechanisms that regulate RGCs survival. METHODS: A […]
Mitochondria Transplantation Promotes Corneal Epithelial Wound Healing
Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):14. doi: 10.1167/iovs.65.6.14. ABSTRACT PURPOSE: The integrity of the corneal epithelium is essential in maintaining normal corneal function. Conditions disrupting the corneal epithelial layer range from chemical burns to dry eye disease and may result in impairment of both corneal transparency and sensation. Identifying factors that regulate corneal wound […]
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype
Am J Med Genet A. 2024 Jun 6:e63783. doi: 10.1002/ajmg.a.63783. Online ahead of print. ABSTRACT Cytochrome c oxidase (COX) deficiency is a phenotypically diverse group of diseases caused by variants in over 30 genes. Biallelic pathogenic variants in COX6B1 have been described in four patients to date with varying disease manifestations. We describe the clinical […]
Genome Sequencing for Diagnosing Rare Diseases
N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. ABSTRACT BACKGROUND: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains poorly defined. METHODS: We sequenced and analyzed the genomes of families with diverse phenotypes who […]
Replenishing IRAK-M expression in retinal pigment epithelium attenuates outer retinal degeneration
Sci Transl Med. 2024 Jun 5;16(750):eadi4125. doi: 10.1126/scitranslmed.adi4125. Epub 2024 Jun 5. ABSTRACT Chronic inflammation is a constitutive component of many age-related diseases, including age-related macular degeneration (AMD). Here, we identified interleukin-1 receptor-associated kinase M (IRAK-M) as a key immunoregulator in retinal pigment epithelium (RPE) that declines during the aging process. Rare genetic variants of […]
Maculopapillary Bundle Degeneration in Optic Neuropathies
Curr Neurol Neurosci Rep. 2024 Jun 4. doi: 10.1007/s11910-024-01343-0. Online ahead of print. ABSTRACT PURPOSE OF REVIEW: Degeneration of the maculopapillary bundle (MPB) is a prominent feature in a spectrum of optic neuropathies. MPB-selective degeneration is seen in specific conditions, such as nutritional and toxic optic neuropathies, Leber hereditary optic neuropathy (LHON), and dominant optic […]
Polarity-Driven Fluorescence Monitoring of Lipid Droplet Dynamics in Dry Eye Disease
Anal Chem. 2024 Jun 3. doi: 10.1021/acs.analchem.4c01366. Online ahead of print. ABSTRACT The emergence of lipid droplets (LDs) has been recognized as cellular markers of ocular surface hyperosmosis, which is recognized as a fundamental mechanism driving dry eye disease (DED), while their dynamics during DED progression and therapy remains unlocked. For this purpose, an LD-specific […]
Glucagon-like peptide-1 receptor agonists rescued diabetic vascular endothelial damage through suppression of aberrant STING signaling
Acta Pharm Sin B. 2024 Jun;14(6):2613-2630. doi: 10.1016/j.apsb.2024.03.011. Epub 2024 Mar 10. ABSTRACT Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) protect against diabetic cardiovascular diseases and nephropathy. However, their activity in diabetic retinopathy (DR) remains unclear. Our retrospective cohort study involving 1626 T2DM patients revealed superior efficacy of GLP-1 RAs in controlling DR compared to other […]
PGC-1α repression dysregulates lipid metabolism and induces lipid droplet accumulation in retinal pigment epithelium
Cell Death Dis. 2024 Jun 1;15(6):385. doi: 10.1038/s41419-024-06762-y. ABSTRACT Drusen, the yellow deposits under the retina, are composed of lipids and proteins, and represent a hallmark of age-related macular degeneration (AMD). Lipid droplets are also reported in the retinal pigment epithelium (RPE) from AMD donor eyes. However, the mechanisms underlying these disease phenotypes remain elusive. […]
Biomarker evidence of early vision and rod energy-linked pathophysiology benefits from very low dose DMSO in 5xFAD mice
Acta Neuropathol Commun. 2024 May 31;12(1):85. doi: 10.1186/s40478-024-01799-8. ABSTRACT Here, we test whether early visual and OCT rod energy-linked biomarkers indicating pathophysiology in nicotinamide nucleotide transhydrogenase (Nnt)-null 5xFAD mice also occur in Nnt-intact 5xFAD mice and whether these biomarkers can be pharmacologically treated. Four-month-old wild-type or 5xFAD C57BL/6 substrains with either a null (B6J) Nnt […]