Epilepsy: Mitochondrial Connections to the ‘Sacred’ Disease
Mitochondrion. 2023 Aug 13:S1567-7249(23)00070-3. doi: 10.1016/j.mito.2023.08.002. Online ahead of print. ABSTRACT Over 65 million people suffer from recurrent, unprovoked seizures. The lack of validated biomarkers specific for myriad forms of epilepsy makes diagnosis challenging. Diagnosis and monitoring of childhood epilepsy add to the need for non-invasive biomarkers, especially when evaluating antiseizure medications. Although underlying mechanisms […]
Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy
Cells. 2023 Aug 7;12(15):2013. doi: 10.3390/cells12152013. ABSTRACT Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial genetic disease that causes blindness in young adults. Over 50 inherited mitochondrial DNA (mtDNA) variations are associated with LHON; however, more than 95% of cases are caused by one of three missense variations (m.11778 G > A, […]
The Role of Mitophagy in Glaucomatous Neurodegeneration
Cells. 2023 Jul 30;12(15):1969. doi: 10.3390/cells12151969. ABSTRACT This review aims to provide a better understanding of the emerging role of mitophagy in glaucomatous neurodegeneration, which is the primary cause of irreversible blindness worldwide. Increasing evidence from genetic and other experimental studies suggests that mitophagy-related genes are implicated in the pathogenesis of glaucoma in various populations. […]
Clinical and genetic analysis of essential hypertension with MT–CYB gene 15024G>A mutation
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Aug 9:1-9. doi: 10.3724/zdxbyxb-2023-0283. Online ahead of print. ABSTRACT OBJECTIVES: To explore the role of MT-CYB 15024G>A mutation in the development of essential hypertension. METHODS: The mitochondrial genome sequencing results of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient […]
Neuroprotective effects of idebenone on hydrogen peroxide-induced oxidative damage in retinal ganglion cells-5
Int Ophthalmol. 2023 Aug 10. doi: 10.1007/s10792-023-02831-x. Online ahead of print. ABSTRACT PURPOSE: To investigate the neuroprotective effect of idebenone against hydrogen peroxide (H2O2)-induced oxidative damage in retinal ganglion cells-5 (RGC-5 cells). METHODS: RGC-5 cells were pre-treated with various idebenone concentrations (5, 10, and 20 µM) for 12 h and were then subjected to 300 […]
Postmortem Ultrastructural Analysis of the Retina from COVID-19 Deceased Patients
Ocul Immunol Inflamm. 2023 Aug 8:1-9. doi: 10.1080/09273948.2023.2238817. Online ahead of print. ABSTRACT PURPOSE: COVID-19 (coronavirus disease 2019) is an infectious disease caused by SARS-CoV-2, first reported in 2019 in Wuhan, China. Among the common complications is a pro-inflammatory and hypercoagulative response that compromises the vasculature among various organs. METHODS: In this report, we present […]
Are we there yet? Is neuro-ophthalmology at the cusp of a paradigm shift? Lessons from leber hereditary optic neuropathy
J Neuroophthalmol. 2013 Jun;33(2):189-97. doi: 10.1097/WNO.0b013e31829343a0. NO ABSTRACT PMID:23681244 | DOI:10.1097/WNO.0b013e31829343a0
The Charles F. Prentice award lecture 2009: Crystalline lens research and serendipity in science
Optom Vis Sci. 2010 Sep;87(9):622-30. doi: 10.1097/OPX.0b013e3181e87d8b. ABSTRACT Whether it is called serendipity or creativity, the process of scientific discovery is not one that lends itself to advance planning or programming, nor does it lend itself to an emphasis solely on applied research, research with industrial partners, or large teams of researchers because researchers must […]
Glutaredoxin 2 protects lens epithelial cells from epithelial-mesenchymal transition by suppressing mitochondrial oxidative stress-related upregulation of integrin-linked kinase
Exp Eye Res. 2023 Aug 2:109609. doi: 10.1016/j.exer.2023.109609. Online ahead of print. ABSTRACT Glutaredoxin 2 (Grx2), a mitochondrial glutathione-dependent oxidoreductase, is crucial for maintaining redox homeostasis and cellular functions in the lens. The oxidative stress-induced epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is related to posterior capsule opacification. In this study, we investigated the […]
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
J Biomed Sci. 2023 Aug 3;30(1):63. doi: 10.1186/s12929-023-00951-1. ABSTRACT BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is no effective treatment for this disease. LHON-linked ND6 14484T > C (p.M64V) mutation caused complex I deficiency, diminished ATP production, increased production of reactive oxygen […]