Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
Am J Med Genet A. 2023 Sep 4. doi: 10.1002/ajmg.a.63392. Online ahead of print. ABSTRACT Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease-causing variants previously reported in affected individuals are missense in […]
TGR5 supresses cGAS/STING pathway by inhibiting GRP75-mediated endoplasmic reticulum-mitochondrial coupling in diabetic retinopathy
Cell Death Dis. 2023 Sep 1;14(9):583. doi: 10.1038/s41419-023-06111-5. ABSTRACT Diabetic retinopathy (DR) is a serious and relatively under-recognized complication of diabetes. Müller glial cells extend throughout the retina and play vital roles in maintaining retinal homeostasis. Previous studies have demonstrated that TGR5, a member of the bile acid-activated GPCR family, could ameliorate DR. However, the […]
Metabolic transcriptomics dictate responses of cone photoreceptors to retinitis pigmentosa
Cell Rep. 2023 Aug 31;42(9):113054. doi: 10.1016/j.celrep.2023.113054. Online ahead of print. ABSTRACT Most mutations in retinitis pigmentosa (RP) arise in rod photoreceptors, but cone photoreceptors, responsible for high-resolution daylight and color vision, are subsequently affected, causing the most debilitating features of the disease. We used mass spectroscopy to follow 13C metabolites delivered to the outer […]
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Genet Med. 2023 Aug 31:100961. doi: 10.1016/j.gim.2023.100961. Online ahead of print. NO ABSTRACT PMID:37650884 | DOI:10.1016/j.gim.2023.100961
Upregulation of Epac1 Promotes Pericyte Loss by Inducing Mitochondrial Fission, Reactive Oxygen Species Production, and Apoptosis
Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):34. doi: 10.1167/iovs.64.11.34. ABSTRACT PURPOSE: The pathogenic mechanisms behind the development of ischemic retinopathy are complex and poorly understood. This study investigates the involvement of exchange protein directly activated by cAMP (Epac)1 signaling in pericyte injury during ischemic retinopathy, including diabetic retinopathy, a disease that threatens vision. METHODS: Mouse […]
Astaxanthin ameliorates oxidative stress in lens epithelial cells by regulating GPX4 and ferroptosis
Chem Biol Interact. 2023 Aug 28:110684. doi: 10.1016/j.cbi.2023.110684. Online ahead of print. ABSTRACT Ferroptosis is a form of regulated cell death closely associated with oxidative stress and mitochondrial dysfunction and is characterised by the accumulation of reactive oxygen species (ROS) and lipid species and iron overload. Damage to human lens epithelial cells (LECs) is associated […]
Clinical and genetic analysis of essential hypertension with CYB gene m.15024G>A mutation
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Aug 25;52(4):510-517. doi: 10.3724/zdxbyxb-2023-0283. ABSTRACT OBJECTIVES: To explore the role of mitochondrial CYB 15024G>A mutation in the development of essential hypertension. METHODS: Mitochondrial genome sequences of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient with mitochondrial CYB 15024G>A mutation […]
A Method for Real-Time Assessment of Mitochondrial Respiration Using Murine Corneal Biopsy
Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):33. doi: 10.1167/iovs.64.11.33. ABSTRACT PURPOSE: To develop and optimize a method to monitor real-time mitochondrial function by measuring the oxygen consumption rate (OCR) in murine corneal biopsy punches with a Seahorse extracellular flux analyzer. METHODS: Murine corneal biopsies were obtained using a biopsy punch immediately after euthanasia. The corneal […]
Trimethylated chitosan-coated flexible liposomes with resveratrol for topical drug delivery to reduce blue-light-induced retinal damage
Int J Biol Macromol. 2023 Aug 25:126480. doi: 10.1016/j.ijbiomac.2023.126480. Online ahead of print. ABSTRACT LED-related blue-light-induced damage can cause eye diseases. However, drug delivery in patients with ocular diseases is faced with various challenges. In this study, we developed flexible liposomes based on trimethylated chitosan (TMC-Lipo) to deliver resveratrol for the treatment of retinal diseases. […]
Selenium Protects ARPE-19 and ACBRI 181 Cells against High Glucose-Induced Oxidative Stress
Molecules. 2023 Aug 9;28(16):5961. doi: 10.3390/molecules28165961. ABSTRACT Diabetic retinopathy (DR), a complication of diabetes mellitus (DM), can cause severe visual loss. The retinal pigment epithelium (RPE) plays a crucial role in retinal physiology but is vulnerable to oxidative damage. We investigated the protective effects of selenium (Se) on retinal pigment epithelium (ARPE-19) and primary human […]