Alternative oxidase blunts pseudohypoxia and photoreceptor degeneration due to RPE mitochondrial dysfunction
Proc Natl Acad Sci U S A. 2024 Jun 18;121(25):e2402384121. doi: 10.1073/pnas.2402384121. Epub 2024 Jun 12. ABSTRACT Loss of mitochondrial electron transport complex (ETC) function in the retinal pigment epithelium (RPE) in vivo results in RPE dedifferentiation and progressive photoreceptor degeneration, and has been implicated in the pathogenesis of age-related macular degeneration. Xenogenic expression of […]
Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology
Eye (Lond). 2024 Jun 11. doi: 10.1038/s41433-024-03154-6. Online ahead of print. ABSTRACT This article describes the main visual electrodiagnostic tests relevant to neuro-ophthalmology practice, including the visual evoked potential (VEP), and the full-field, pattern and multifocal electroretinograms (ffERG; PERG; mfERG). The principles of electrophysiological interpretation are illustrated with reference to acquired and inherited optic neuropathies, […]
Reassessing Retinal Pigment Epithelial Ketogenesis: Enzymatic Assays for Ketone Body Levels Provide Inaccurate Results
Exp Eye Res. 2024 Jun 8:109966. doi: 10.1016/j.exer.2024.109966. Online ahead of print. ABSTRACT The retinal pigment epithelium (RPE) is omnivorous and can utilize a wide range of substrates for oxidative phosphorylation. Certain tissues with high mitochondrial metabolic load are capable of ketogenesis, a biochemical pathway that consolidates acetyl-CoA into ketone bodies. Earlier work demonstrated that […]
IP3R2 regulates apoptosis by Ca2+ transfer through mitochondria-ER contacts in hypoxic photoreceptor injury
Exp Eye Res. 2024 Jun 6:109965. doi: 10.1016/j.exer.2024.109965. Online ahead of print. ABSTRACT Mitochondria-associated ER membranes (MAMs) are contact sites that enable bidirectional communication between the ER (endoplasmic reticulum) and mitochondria, including the transfer of Ca2+ signals. MAMs are essential for mitochondrial function and cellular energy metabolism. However, unrestrained Ca2+ transfer to the mitochondria can […]
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 […]