Association between ambient particulate matter exposure and mitochondrial DNA copy number: A systematic review and meta-analysis
Sci Total Environ. 2024 Mar 3:171423. doi: 10.1016/j.scitotenv.2024.171423. Online ahead of print. ABSTRACT BACKGROUND: Ambient particulate matter (PM) has been recognized as inducing oxidative stress, which could contribute to mitochondrial damage and dysfunction. However, studies investigating the association between ambient PM and mitochondria, particularly mitochondrial DNA copy number (mtDNA-CN), have yielded inconsistent results. METHODS: We […]
The anti-apoptotic role of Ginkgolide B via mitochondrial permeability transition pore inhibition in retinal ischemia-reperfusion
Biochem Biophys Res Commun. 2024 Mar 1;705:149722. doi: 10.1016/j.bbrc.2024.149722. Online ahead of print. ABSTRACT This research delves into the effectiveness of Ginkgolide B (GB), a compound from Ginkgo biloba, in combating cell death caused by glaucoma, with a focus on mitochondrial impairment and the mitochondrial permeability transition pore (mPTP). Utilizing models of high intraocular pressure […]
NUDC is critical for rod photoreceptor function, maintenance, and survival
FASEB J. 2024 Mar 15;38(5):e23518. doi: 10.1096/fj.202301641RR. ABSTRACT NUDC (nuclear distribution protein C) is a mitotic protein involved in nuclear migration and cytokinesis across species. Considered a cytoplasmic dynein (henceforth dynein) cofactor, NUDC was shown to associate with the dynein motor complex during neuronal migration. NUDC is also expressed in postmitotic vertebrate rod photoreceptors where […]
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8. ABSTRACT DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites of genetic regulation in cis (37,453 methylation quantitative trait loci and 12,505 expression […]
An atypical presentation of Leber’s hereditary optic neuropathy in childhood
J Fr Ophtalmol. 2024 Mar;47(3):104037. doi: 10.1016/j.jfo.2023.104037. Epub 2024 Feb 19. NO ABSTRACT PMID:38377845 | DOI:10.1016/j.jfo.2023.104037
Stochasticity in genetics and gene regulation
Philos Trans R Soc Lond B Biol Sci. 2024 Apr 22;379(1900):20230476. doi: 10.1098/rstb.2023.0476. Epub 2024 Mar 4. ABSTRACT Development from fertilized egg to functioning multi-cellular organism requires precision. There is no precision, and often no survival, without plasticity. Plasticity is conferred partly by stochastic variation, present inherently in all biological systems. Gene expression levels fluctuate […]
Translocator protein (18 kDa) (Tspo) in the retina and implications for ocular diseases
Prog Retin Eye Res. 2024 Feb 29:101249. doi: 10.1016/j.preteyeres.2024.101249. Online ahead of print. ABSTRACT Translocator protein (18 kDa) (Tspo), formerly known as peripheral benzodiazepine receptor is a highly conserved transmembrane protein primarily located in the outer mitochondrial membrane. In the central nervous system (CNS), especially in glia cells, Tspo is upregulated upon inflammation. Consequently, Tspo […]
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial
Cell Rep Med. 2024 Feb 28:101437. doi: 10.1016/j.xcrm.2024.101437. Online ahead of print. ABSTRACT Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. Idebenone has been shown to be effective in stabilizing and restoring vision in patients treated within 1 year of onset of vision loss. The open-label, […]
Prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume
Acta Neuropathol Commun. 2024 Mar 1;12(1):37. doi: 10.1186/s40478-024-01724-z. ABSTRACT Leber’s hereditary optic neuropathy (LHON) is driven by mtDNA mutations affecting Complex I presenting as progressive retinal ganglion cell dysfunction usually in the absence of extra-ophthalmic symptoms. There are no long-term neuroprotective agents for LHON. Oral nicotinamide provides a robust neuroprotective effect against mitochondrial and metabolic […]
Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes
Semin Ophthalmol. 2024 Feb 29:1-4. doi: 10.1080/08820538.2024.2323114. Online ahead of print. ABSTRACT The prognosis of 11,778 mitochondrial mutations in Leber hereditary optic neuropathy (LHON) is poor. Patients with favorable outcomes (visual acuity better than 20/100) who could be observed for more than 6 months were analyzed. Among 74 patients (57 male, 17 female), 6 (8.1%) […]