Functional consequences of familial ALS-associated SOD1L84F in neuronal and muscle cells
FASEB J. 2024 Feb 15;38(3):e23461. doi: 10.1096/fj.202301979R. ABSTRACT Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder characterized by progressive skeletal muscle denervation and loss of motor neurons that results in muscle atrophy and eventual death due to respiratory failure. Previously, we identified a novel SOD1L84F variation in a familial ALS case. In this study, we […]
Consequences of exposure to particulate matter on the ocular surface: Mechanistic insights from cellular mechanisms to epidemiological findings
Environ Pollut. 2024 Feb 2:123488. doi: 10.1016/j.envpol.2024.123488. Online ahead of print. ABSTRACT Exposure to air pollutants, especially in the case of particulate matter (PM), poses significant health risks throughout the body. The ocular surface is directly exposed to atmospheric PM making it challenging to avoid. This constant exposure makes the ocular surface a valuable model […]
Dysregulation of the circRNA_0087207/miR-548c-3p/PLSR1-TGFB2 axis in Leber’s hereditary optic neuropathy in vitro
J Chin Med Assoc. 2024 Feb 2. doi: 10.1097/JCMA.0000000000001063. Online ahead of print. ABSTRACT BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is mainly the degeneration of retinal ganglion cells (RGCs) associated with high apoptosis and reactive oxygen species (ROS) levels, which is accepted to be caused by the mutations in the subunits of complex I of […]
Optic Neuropathy Associated with POLG Mutations: A Case Series and Literature Review
J Neuroophthalmol. 2024 Jan 31. doi: 10.1097/WNO.0000000000002089. Online ahead of print. ABSTRACT BACKGROUND: The clinical characteristics of patients with polymerase gamma (POLG) mutation-associated optic neuropathy remain incompletely characterized. METHODS: We describe the clinical characteristics of 3 patients with POLG-associated optic neuropathy. We performed a literature review of optic neuropathy cases associated with POLG mutations and […]
Damage to the orbicularis oculi muscle may impair the development of dermatochalasis
Sci Rep. 2024 Jan 29;14(1):2417. doi: 10.1038/s41598-024-52955-y. ABSTRACT The purpose of this article is to investigate the changes that occur in the orbicularis oculi muscle (OOM) in patients with dermatochalasis. The OOM specimens from 26 patients were collected during upper eyelid blepharoplasty. Each specimen was divided into three parts, which were then examined using different […]
miR-26a-5p Attenuates Oxidative Stress and Inflammation in Diabetic Retinopathy through the USP14/NF-κB Signaling Pathway
J Ophthalmol. 2024 Jan 19;2024:1470898. doi: 10.1155/2024/1470898. eCollection 2024. ABSTRACT PURPOSE: Diabetic retinopathy (DR) is an ocular disease caused by diabetes and may lead to vision impairment and even blindness. Oxidative stress and inflammation are two key pathogenic factors of DR. Recently, regulatory roles of different microRNAs (miRNAs) in DR have been widely verified. miR-26a-5p […]
Mitochondrial ferritin upregulation reduced oxidative stress and blood-brain-barrier disruption by maintaining cellular iron homeostasis in a neonatal rat model of germinal matrix hemorrhage
Exp Neurol. 2024 Jan 26:114703. doi: 10.1016/j.expneurol.2024.114703. Online ahead of print. ABSTRACT Germinal matrix hemorrhage (GMH) is a devasting neurological disease in premature newborns. After GMH, brain iron overload associated with hemoglobin degradation contributed to oxidative stress, causing disruption of the already vulnerable blood-brain barrier (BBB). Mitochondrial ferritin (FTMT), a novel mitochondrial outer membrane protein, […]
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients
Am J Ophthalmol. 2024 Jan 24:S0002-9394(24)00014-X. doi: 10.1016/j.ajo.2024.01.011. Online ahead of print. ABSTRACT PURPOSE: Heterozygous mutations in AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated to isolated forms of Dominant Optic Atrophy (DOA). We aimed at describing their neuro-ophthalmological phenotype as compared […]
AIBP: A New Safeguard against Glaucomatous Neuroinflammation
Cells. 2024 Jan 21;13(2):198. doi: 10.3390/cells13020198. ABSTRACT Glaucoma is a group of ocular diseases that cause irreversible blindness. It is characterized by multifactorial degeneration of the optic nerve axons and retinal ganglion cells (RGCs), resulting in the loss of vision. Major components of glaucoma pathogenesis include glia-driven neuroinflammation and impairment of mitochondrial dynamics and bioenergetics, […]
Acetylated tau exacerbates apoptosis by disturbing mitochondrial dynamics in HEK293 cells
J Neurochem. 2024 Jan 26. doi: 10.1111/jnc.16053. Online ahead of print. ABSTRACT An increase in tau acetylation at K274 and K281 and abnormal mitochondrial dynamics have been observed in the brains of Alzheimer’s disease (AD) patients. Here, we constructed three types of tau plasmids, TauKQ (acetylated tau mutant, by mutating its K274/K281 into glutamine to […]