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 […]
Light stimulation of mitochondria reduces blood glucose levels
J Biophotonics. 2024 Feb 20:e202300521. doi: 10.1002/jbio.202300521. Online ahead of print. ABSTRACT Mitochondria regulate metabolism, but solar light influences its rate. Photobiomodulation (PBM) with red light (670 nm) increases mitochondrial membrane potentials and adenosine triphosphate production and may increase glucose demand. Here we show, with a glucose tolerance test, that PBM of normal subjects significantly […]
Resveratrol prevents age-related heart impairment through inhibiting the Notch/NF-κB pathway
Food Sci Nutr. 2023 Nov 13;12(2):1035-1045. doi: 10.1002/fsn3.3817. eCollection 2024 Feb. ABSTRACT Resveratrol (RSV) is a natural polyphenol compound found in various plants that has been shown to have potential benefits for preventing aging and supporting cardiovascular health. However, the specific signal pathway by which RSV protects the aging heart is not yet well understood. […]
Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity
Prog Retin Eye Res. 2024 Feb 16:101248. doi: 10.1016/j.preteyeres.2024.101248. Online ahead of print. ABSTRACT Blindness poses a growing global challenge, with approximately 26% of cases attributed to degenerative retinal diseases. While gene therapy, optogenetic tools, photosensitive switches, and retinal prostheses offer hope for vision restoration, these high-cost therapies will benefit few patients. Understanding retinal diseases […]
Single-cell transcriptomic Atlas of aging macaque ocular outflow tissues
Protein Cell. 2024 Feb 15:pwad067. doi: 10.1093/procel/pwad067. Online ahead of print. ABSTRACT The progressive degradation in the trabecular meshwork (TM) is related to age-related ocular diseases like primary open-angle glaucoma. However, the molecular basis and biological significance of the aging process in TM have not been fully elucidated. Here, we established a dynamic single-cell transcriptomic […]