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 […]
Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse model
bioRxiv [Preprint]. 2024 Feb 7:2023.08.03.551766. doi: 10.1101/2023.08.03.551766. ABSTRACT Retinitis pigmentosa (RP) is a prevalent inherited retinal degenerative disease worldwide, affecting 1 in 4,000 people. The disease is characterized by an initial loss of night vision followed by a loss of daylight and color vision. Many of the RP disease genes are expressed in the rod […]
Increased Diabetes Complications in a Mouse Model of Oxidative Stress Due to ‘Mismatched’ Mitochondrial DNA
Antioxidants (Basel). 2024 Feb 1;13(2):187. doi: 10.3390/antiox13020187. ABSTRACT Associations between chronic diabetes complications and mitochondrial dysfunction represent a subject of major importance, given the diabetes pandemic and high personal and socioeconomic costs of diabetes and its complications. Modelling diabetes complications in inbred laboratory animals is challenging due to incomplete recapitulation of human features, but offer […]
Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions
Genes (Basel). 2024 Feb 15;15(2):246. doi: 10.3390/genes15020246. ABSTRACT A progressive neurological disorder was observed in a male neutered Weimaraner. Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 […]
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
Genes (Basel). 2024 Jan 30;15(2):188. doi: 10.3390/genes15020188. ABSTRACT Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of […]
Abnormal Alpha-Synuclein Aggregates Cause Synaptic- and Microcircuit-specific Deficits in the Retinal Rod Pathway
Am J Pathol. 2024 Feb 21:S0002-9440(24)00066-X. doi: 10.1016/j.ajpath.2024.01.017. Online ahead of print. ABSTRACT Alpha-synuclein (α-Syn) is a key determinator of Parkinson’s disease (PD) pathology, but synapse and microcircuit pathologies in the retina underlying visual dysfunction are poorly understood. Using the old transgenic M83 PD model (16-18 monthes) coupled with histochemical and ultra-structural analyses and ophthalmologic […]
Mitochondrial Chronic Progressive External Ophthalmoplegia
Brain Sci. 2024 Jan 27;14(2):135. doi: 10.3390/brainsci14020135. ABSTRACT BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis for proper management. METHODS: This study is conducted based on publications and guidelines obtained by […]