Frontiers in Ophthalmology, Год журнала: 2024, Номер 4

Опубликована: Окт. 30, 2024

The mitochondrial genome can replicate independently of nuclear DNA, and in humans there are usually 100-10,000 copies mtDNA present each cell [5]. is organized as a circular, double-stranded DNA molecule codes for only 37 genes across ~16,600 base pairs. Homoplasmy describes the state when all mutant heteroplasmy proportion Theref ore, coexistence multiple species (wild type mutated variants) single or among cells within an individual makes diseases more complex heterogeneous.The status research into pathogenesis therapy LHON reviewed by Esmaeil et al (doi: 10.3389/f opht.2022.1077395). They provide overview prevalence LHON, established mutations OXPHOS I genes, ongoing controversies around bioenergetic insuf ficiency versus oxidative stress primary pathogenic drivers. In addition, they consider clinical course condition, along with other extraocular f eatures potential links to neurological disorders. conclude update on gene trials which show promise. Some phenotypic similarities between classic optic neuropathies glaucoma have prompted contributions glaucoma, most common neuropathy. Studies found evidence functional genetic [2,6]. report from Vallbona-Garcia 10.3389/fopht.2023.1309836) adds this showing that D-loop homoplasmic variants appear be increased high tension subjects higher percentage those being 7S HV1 region. As noncoding but contains regions crucial regulation replication transcription, speculate some these may lead copy number depletion group has previously identified sub-group [7]. An improved understanding changes vital determining role treatments target biogenesis uture strategies neuro -ophthalmological disorders.Ref lecting disparities access health care participation studies, individuals African ancestry been underrepresented retinal participants. Patients origin disproportionately affected open angle (POAG) at ages ; POAG Af rican Americans ivefold than Caucasians. biological mechanisms af ected poorly understood. Kuang opht.2023.1267119) bring current analyses focus. presents largest diversity variation humans, due continent source human dispersal prehistory. such, requires large caref ully matched cohorts analysis. summarize associations date, non-L3 L haplogroups subjects. establishment Primary Open Angle American Glaucoma Genetics study (POAAGG) Philadelphia area already uncovered new loci associated risk population [8]; we eagerly await analysis cohort date. specialized imaging technologies well suited detecting dysfunction vivo [9]. Among these, flavoprotein fluorescence (FPF) holds Both NAD/H FAD/H key intermediaries OXPHOS, their intrinsic fluorescence, measurement information metabolic alterations stress. Ahsanuddin 10.3389/fopht.2023.1110501) generation FPF cameras robustly discriminate diseased eyes various stress, including exudative macular degeneration, diabetic retinopathy vein occlusion. Imaging using luorescence enable real-time, non-invasive assessment cellular health, potentially leading earlier detection greater progression. This technology great promise parsing endophenotypes diverse disease groupings such [10].Rombaut opht.2023.1290465) go beyond ganglion explore wider glia glaucoma. Retinal glial support protect maintaining structural integrity retina, regulating neurotransmitter levels, managing environment ensure proper visual function. -glia coupling, Muller cells, microglia astrocytes. authors authoritative perspective NAD balance, lactate shuttle, glutamate handling lipid shuttling roles neurons, how impacts turn inf luence neuronal survival where mitochondria sit central hub. Hence also shared neuroprotective targets treatment.Mitochondrial studies ophthalmic continue gain momentum. relative ease eye ocular samples, puts orefront therapeutic development neuroscience. overlap neurodegenerative brain diseases, dysfunction, promises productive Mitochondrial hub, added twist having own maternally inherited brings complexity recently appreciated. integration genetics unction advancing our providing translational personalised

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