Category: Ophthalmology AND mitochondrial

RBPJ Knockdown Promotes M2 Macrophage Polarization Through Mitochondrial ROS-mediated Notch1-Jagged1-Hes1 Signaling Pathway in Uveitis

Inflammation. 2024 May 18. doi: 10.1007/s10753-024-02053-y. Online ahead of print. ABSTRACT Uveitis is an autoimmune eye disease that can be involved in the entire body and is one of the leading causes of blindness. Therefore, comprehending the mechanisms underlying the development and regulation of ocular immune responses in uveitis is crucial for designing effective therapeutic […]

Alzheimer’s Disease Pathophysiology in the Retina

Prog Retin Eye Res. 2024 May 15:101273. doi: 10.1016/j.preteyeres.2024.101273. Online ahead of print. ABSTRACT The retina is an emerging CNS target for potential noninvasive diagnosis and tracking of Alzheimer’s disease (AD). Studies have identified the pathological hallmarks of AD, including amyloid β-protein (Aβ) deposits and abnormal tau protein isoforms, in the retinas of AD patients […]

Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber’s hereditary optic neuropathy due to DNAJC30 mutations

Eur J Neurol. 2024 May 17:e16344. doi: 10.1111/ene.16344. Online ahead of print. ABSTRACT Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis-like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of […]

Leber’s hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

Am J Ophthalmol Case Rep. 2024 May 3;34:102070. doi: 10.1016/j.ajoc.2024.102070. eCollection 2024 Jun. ABSTRACT PURPOSE: To describe a case with Leber’s hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. OBSERVATIONS: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor […]

Acylcarnitine Abnormalities Implicate Mitochondrial Dysfunction in Patients With Neovascular Age-Related Macular Degeneration

Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):32. doi: 10.1167/iovs.61.8.32. ABSTRACT PURPOSE: Abnormalities in lipid metabolism are implicated in age-related macular degeneration (AMD), but the pathways involved remain unclear. We assessed whether acylcarnitine concentrations, a marker of lipid and mitochondrial metabolism, differed between patients with AMD and controls. METHODS: In this cross-sectional case-control study, cases (n […]

MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer’s Disease Sequencing Project

J Alzheimers Dis Rep. 2024 Apr 8;8(1):575-587. doi: 10.3233/ADR-230120. eCollection 2024. ABSTRACT BACKGROUND: Mitochondrial DNA (mtDNA) is a double-stranded circular DNA and has multiple copies in each cell. Excess heteroplasmy, the coexistence of distinct variants in copies of mtDNA within a cell, may lead to mitochondrial impairments. Accurate determination of heteroplasmy in whole-genome sequencing (WGS) […]

“Resilience to diabetic retinopathy”

Prog Retin Eye Res. 2024 May 11:101271. doi: 10.1016/j.preteyeres.2024.101271. Online ahead of print. ABSTRACT Chronic elevation of blood glucose at first causes relatively minor changes to the neural and vascular components of the retina. As the duration of hyperglycemia persists, the nature and extent of damage increases and becomes readily detectable. While this second, overt […]

Association Between Corneal Changes and Retinal Oximetry in Diabetes Mellitus

Clin Ophthalmol. 2024 May 7;18:1235-1243. doi: 10.2147/OPTH.S456020. eCollection 2024. ABSTRACT PURPOSE: Diabetes mellitus (DM) causes different corneal changes that are associated with the severity of diabetic retinopathy. To identify the pathophysiological reasons for this, corneal tomography and optical densitometry (COD) were combined with retinal oximetry. METHODS: Patients with DM and healthy subjects were included in […]