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 […]
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 […]
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, […]
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%) […]
Mitochondrial damage and clearance in retinal pigment epithelial cells
Acta Ophthalmol. 2024 Feb 28. doi: 10.1111/aos.16664. Online ahead of print. NO ABSTRACT PMID:38415914 | DOI:10.1111/aos.16664
The Impact of Aging on the Function of Retinal Ganglion Cells
Klin Monbl Augenheilkd. 2024 Feb;241(2):162-169. doi: 10.1055/a-2239-0290. Epub 2024 Feb 27. ABSTRACT Aging is a major risk factor for retinal neurodegenerative diseases. Aged mammalian retinal ganglion cells (RGCs) lack the ability to regenerate axons after injury. Rodent models suggest that older age increases the vulnerability of RGCs to injury and impairs RGC function as well […]
Miro1 improves the exogenous engraftment efficiency and therapeutic potential of mitochondria transfer using Wharton’s jelly mesenchymal stem cells
Mitochondrion. 2024 Feb 24:101856. doi: 10.1016/j.mito.2024.101856. Online ahead of print. ABSTRACT Mitochondria are important for maintaining cellular energy metabolism and regulating cellular senescence. Mitochondrial DNA (mtDNA) encodes subunits of the OXPHOS complexes which are essential for cellular respiration and energy production. Meanwhile, mtDNA variants have been associated with the pathogenesis of neurodegenerative diseases, including MELAS, […]
Establishing chronic models of age-related macular degeneration via long-term iron ion overload
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00532.2023. Online ahead of print. ABSTRACT Age-related macular degeneration (AMD) is characterized by the degenerative senescence in the retinal pigment epithelium (RPE) and photoreceptors, which is accompanied by the accumulation of iron ions in the aging retina. However, current models of acute oxidative stress are still […]