Category: Ophthalmology AND mitochondrial

Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings

Ophthalmic Genet. 2023 Sep 6:1-8. doi: 10.1080/13816810.2023.2253905. Online ahead of print. ABSTRACT AIM: We describe the ophthalmic manifestations of Neuropathy, ataxia, retinitis pigmentosa (NARP) syndrome in three related patients. METHODS: We examined a mother and her two children, who were carriers of the mt 8993T>G mutation. The mother, patient I, is the first known carrier […]

Long-term high-fat diet’s impact on synaptic plasticity in the visual cortex and hippocampus neurons: an experimental study

Zhonghua Yan Ke Za Zhi. 2023 Sep 11;59(9):730-739. doi: 10.3760/cma.j.cn112142-20221213-00633. ABSTRACT Objective: To investigate the effects and mechanisms of long-term high-fat diet on synaptic plasticity in the visual cortex and hippocampus neurons of juvenile mice. Methods: This was an experimental study. Twenty-four 4-week-old male C57BL/6J mice were randomly divided into two groups, using a randomized […]

Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions

J Neuroophthalmol. 2023 Sep 4. doi: 10.1097/WNO.0000000000001984. Online ahead of print. ABSTRACT BACKGROUND: Establishing a molecular diagnosis of mitochondrial diseases due to pathogenic mitochondrial DNA (mtDNA) variants can be difficult because of varying levels of tissue heteroplasmy, and identifying these variants is important for clinical management. Here, we present clinical and molecular findings in 8 […]

Supramolecular Senolytics via Intracellular Oligomerization of Peptides in Response to Elevated Reactive Oxygen Species Levels in Aging Cells

J Am Chem Soc. 2023 Sep 4. doi: 10.1021/jacs.3c06898. Online ahead of print. ABSTRACT Senolytics, which eliminate senescent cells from tissues, represent an emerging therapeutic strategy for various age-related diseases. Most senolytics target antiapoptotic proteins, which are overexpressed in senescent cells, limiting specificity and inducing severe side effects. To overcome these limitations, we constructed self-assembling […]

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 […]

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 […]