P01-A120 Pre-dissected dmek stored in an active storage machine: feasibility study
BMJ Open Ophthalmol. 2023 Aug;8(Suppl 2):A1. doi: 10.1136/bmjophth-2023-EEBA.1. ABSTRACT PURPOSE: The number of endothelial grafts precut by eye banks increases. Their shelf life is limited to a few days. We previously demonstrated the superiority of an active storage machine (ASM) over organ culture (passive) for whole corneas. AIMS: To measure the endothelial viability of pre-dissected […]
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
Ophthalmic Genet. 2023 Aug 21:1-7. doi: 10.1080/13816810.2023.2245464. Online ahead of print. ABSTRACT BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) […]
Dapagliflozin improves diabetic cognitive impairment via indirectly modulating the mitochondria homeostasis of hippocampus in diabetic mice
Biofactors. 2023 Aug 19. doi: 10.1002/biof.1998. Online ahead of print. ABSTRACT Cognitive impairment is increasingly recognized as an important comorbidity of diabetes progression; however, the underlying molecular mechanism is unclear. Dapagliflozin, an inhibitor of sodium-glucose co-transporter 2 (SGLT2), has shown promising effects against diabetes in rodent experiments and human clinical assays. This study aimed to […]
Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurology. 2023 Aug 18:10.1212/WNL.0000000000207658. doi: 10.1212/WNL.0000000000207658. Online ahead of print. ABSTRACT We present the case of a 48-year-old man who was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurological workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and […]
Impaired Removal of the Damaged Mitochondria in the Metabolic Memory Phenomenon Associated with Continued Progression of Diabetic Retinopathy
Mol Neurobiol. 2023 Aug 18. doi: 10.1007/s12035-023-03534-1. Online ahead of print. ABSTRACT Retinopathy fails to halt even after diabetic patients in poor glycemic control try to institute tight glycemic control, suggesting a “metabolic memory” phenomenon, and the experimental models have demonstrated that mitochondria continue to be damaged/dysfunctional, fueling into the vicious cycle of free radicals. […]
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 […]