REG1A protects retinal photoreceptors from blue light damage
Ann N Y Acad Sci. 2023 Aug 2. doi: 10.1111/nyas.15045. Online ahead of print. ABSTRACT With the increased use of artificial light and the prolonged use of optoelectronic products, light damage (LD) to the human retina has been identified as a global vision-threatening problem. While there is evidence of a significant correlation between light-induced retinal […]
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review
Am J Med Genet A. 2023 Aug 2. doi: 10.1002/ajmg.a.63361. Online ahead of print. ABSTRACT Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33-year-old male who presented with a 16-year history of diarrhea with black stool and progressive weight loss. […]
Histopathological View of Benign Essential Blepharospasm: Orbicularis Oculi Hormone Receptor Levels
Beyoglu Eye J. 2023 May 1;8(2):110-114. doi: 10.14744/bej.2023.16779. eCollection 2023. ABSTRACT OBJECTIVES: Benign essential blepharospasm (BEB) is a focal dystonia characterized by involuntary contractions of the orbicularis oculi and periocular muscles. We aimed to investigate the effects of muscle receptor levels on the etiopathogenesis of blepharospasm by evaluating the orbicularis oculi estrogen receptor (ER) and […]
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
Int J Mol Sci. 2023 Jul 13;24(14):11429. doi: 10.3390/ijms241411429. ABSTRACT Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study […]
Rapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection
J Mol Diagn. 2023 Aug;25(8):540-554. doi: 10.1016/j.jmoldx.2023.04.006. ABSTRACT Leber hereditary optic neuropathy (LHON) is the most common maternally inherited mitochondrial disease, with >90% of cases harboring one of three point variants (m.3460G>A, m.11778G>A, and m.14484T>C). Rapid and sensitive diagnosis of LHON variants is urgently needed for early diagnosis and timely treatment after onset, which is […]
Cellular localization of FOXO3 determines its role in cataractogenesis
Am J Pathol. 2023 Jul 28:S0002-9440(23)00269-9. doi: 10.1016/j.ajpath.2023.06.016. Online ahead of print. ABSTRACT The transcription factor FOXO3 is a core regulator of cellular homeostasis, stress response, and longevity. The cellular localization of FOXO3 is closely related to its function. Here, we explored the role of FOXO3 in cataract formation. FOXO3 showed nuclear translocation in lens […]
Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy
Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):32. doi: 10.1167/iovs.64.10.32. ABSTRACT PURPOSE: The extreme variation in expressivity of autosomal dominant optic atrophy (ADOA) is unexplained. It is present from early childhood, why there is reason to search for pre- and perinatal risk factors for poor vision in ADOA. The process of ganglion cell pruning in the […]
Glucose controls glucagon secretion by regulating fatty acid oxidation in pancreatic alpha cells
Diabetes. 2023 Jul 26:db230056. doi: 10.2337/db23-0056. Online ahead of print. ABSTRACT Whole-body glucose homeostasis is coordinated through secretion of glucagon and insulin from pancreatic islets. When glucose is low, glucagon is released from α-cells to stimulate hepatic glucose production. However, the mechanisms that regulate glucagon secretion from pancreatic α-cells remain unclear. Here we show that […]
The role of mitochondrial genes on nuclear gene expression in neovascular age related macular degeneration: analysis of nuclear VEGF gene expression after ranibizumab treatment in cytoplasmic hybrid retinal pigment epithelial cell lines correlated with clinical evolution
Int J Retina Vitreous. 2023 Jul 25;9(1):44. doi: 10.1186/s40942-023-00476-7. ABSTRACT PURPOSE: The present study tests the hypothesis that mitochondrial genes have retrograde signaling capacity that influences the expression of nuclear genes related to angiogenesis pathways. Cytoplasmic hybrid (cybrid) in vitro cell lines with patient specific mitochondria inserted into an immortalized retinal pigment epithelial cell line […]
High-Fat Diet Alters Acylcarnitine Metabolism of the Retina and Retinal Pigment Epithelium/Choroidal Tissues in Laser-Induced Choroidal Neovascularization Rat Models
Mol Nutr Food Res. 2023 Jul 25:e2300080. doi: 10.1002/mnfr.202300080. Online ahead of print. ABSTRACT SCOPE: Choroidal neovascularization (CNV) is age-related macular degeneration’s (AMD) main pathological change. High-fat diet (HFD) is associated with a form of CNV; however, the specific mechanism is unclear. Mitochondrial dysfunction, characterized by abnormal acylcarnitine, occurs during metabolic screening of serum or […]