Leber’s hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
Am J Ophthalmol Case Rep. 2024 May 3;34:102070. doi: 10.1016/j.ajoc.2024.102070. eCollection 2024 Jun. ABSTRACT PURPOSE: To describe a case with Leber’s hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. OBSERVATIONS: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor […]
Acylcarnitine Abnormalities Implicate Mitochondrial Dysfunction in Patients With Neovascular Age-Related Macular Degeneration
Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):32. doi: 10.1167/iovs.61.8.32. ABSTRACT PURPOSE: Abnormalities in lipid metabolism are implicated in age-related macular degeneration (AMD), but the pathways involved remain unclear. We assessed whether acylcarnitine concentrations, a marker of lipid and mitochondrial metabolism, differed between patients with AMD and controls. METHODS: In this cross-sectional case-control study, cases (n […]
MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer’s Disease Sequencing Project
J Alzheimers Dis Rep. 2024 Apr 8;8(1):575-587. doi: 10.3233/ADR-230120. eCollection 2024. ABSTRACT BACKGROUND: Mitochondrial DNA (mtDNA) is a double-stranded circular DNA and has multiple copies in each cell. Excess heteroplasmy, the coexistence of distinct variants in copies of mtDNA within a cell, may lead to mitochondrial impairments. Accurate determination of heteroplasmy in whole-genome sequencing (WGS) […]
Atypical Late-Onset Leber Hereditary Optic Neuropathy (LHON) Associated With T14484C Mutation
J Neuroophthalmol. 2024 Jun 1;44(2):e224-e226. doi: 10.1097/WNO.0000000000001835. Epub 2023 Apr 19. NO ABSTRACT PMID:38741248 | DOI:10.1097/WNO.0000000000001835
Novel Mutations in the ND5 Gene Associated With Leber Hereditary Optic Neuropathy
J Neuroophthalmol. 2024 Jun 1;44(2):e227-e229. doi: 10.1097/WNO.0000000000001796. Epub 2023 Jan 4. NO ABSTRACT PMID:38741249 | DOI:10.1097/WNO.0000000000001796
“Resilience to diabetic retinopathy”
Prog Retin Eye Res. 2024 May 11:101271. doi: 10.1016/j.preteyeres.2024.101271. Online ahead of print. ABSTRACT Chronic elevation of blood glucose at first causes relatively minor changes to the neural and vascular components of the retina. As the duration of hyperglycemia persists, the nature and extent of damage increases and becomes readily detectable. While this second, overt […]
Association Between Corneal Changes and Retinal Oximetry in Diabetes Mellitus
Clin Ophthalmol. 2024 May 7;18:1235-1243. doi: 10.2147/OPTH.S456020. eCollection 2024. ABSTRACT PURPOSE: Diabetes mellitus (DM) causes different corneal changes that are associated with the severity of diabetic retinopathy. To identify the pathophysiological reasons for this, corneal tomography and optical densitometry (COD) were combined with retinal oximetry. METHODS: Patients with DM and healthy subjects were included in […]
New Insights in ATP Synthesis as Therapeutic Target in Cancer and Angiogenic Ocular Diseases
J Histochem Cytochem. 2024 May 11:221554241249515. doi: 10.1369/00221554241249515. Online ahead of print. ABSTRACT Lactate and ATP formation by aerobic glycolysis, the Warburg effect, is considered a hallmark of cancer. During angiogenesis in non-cancerous tissue, proliferating stalk endothelial cells (ECs) also produce lactate and ATP by aerobic glycolysis. In fact, all proliferating cells, both non-cancer and […]
Vitamin C alleviates hyperglycemic stress in retinal pigment epithelial cells
Mol Biol Rep. 2024 May 10;51(1):637. doi: 10.1007/s11033-024-09595-2. ABSTRACT BACKGROUND: Retinal pigment epithelial cells (RPECs) are a type of retinal cells that structurally and physiologically support photoreceptors. However, hyperglycemia has been shown to play a critical role in the progression of diabetic retinopathy (DR), which is one of the leading causes of vision impairment. In […]
Rod photoreceptor-specific deletion of cytosolic aspartate aminotransferase, GOT1, causes retinal degeneration
Front Ophthalmol (Lausanne). 2023;3:1306019. doi: 10.3389/fopht.2023.1306019. Epub 2023 Dec 5. ABSTRACT Photoreceptor cell death is the cause of vision loss in many forms of retinal disease. Metabolic dysfunction within the outer retina has been shown to be an underlying factor contributing to photoreceptor loss. Therefore, a comprehensive understanding of the metabolic pathways essential to photoreceptor […]