Diagnostic dilemma: Leber’s hereditary optic neuropathy in a 70-year-Old woman
Am J Ophthalmol Case Rep. 2024 Aug 22;36:102143. doi: 10.1016/j.ajoc.2024.102143. eCollection 2024 Dec. ABSTRACT PURPOSE: Reports of atypical cases have increased awareness that Leber’s hereditary optic neuropathy (LHON) is not solely a disease of young men. Here, we present a case of a 70-year-old woman who presented with bilateral sequential loss of vision, and, after […]
The S341P mutant MYOC renders the trabecular meshwork sensitive to cyclic mechanical stretch
Heliyon. 2024 Aug 29;10(17):e37137. doi: 10.1016/j.heliyon.2024.e37137. eCollection 2024 Sep 15. ABSTRACT The trabecular meshwork (TM) plays an essential role in the circulation of aqueous humor by sensing mechanical stretch. The balance between the outflow and inflow of aqueous humor is critical in regulating intraocular pressure (IOP). A dysfunctional TM leads to resistance to the outflow […]
PPARgamma drives mitochondrial stress signaling and the loss of atrial cardiomyocytes in newborn mice exposed to hyperoxia
Redox Biol. 2024 Sep 12;76:103351. doi: 10.1016/j.redox.2024.103351. Online ahead of print. ABSTRACT Diastolic dysfunction is increasingly common in preterm infants exposed to supplemental oxygen (hyperoxia). Previous studies in neonatal mice showed hyperoxia suppresses fatty acid synthesis genes required for proliferation and survival of atrial cardiomyocytes. The loss of atrial cardiomyocytes creates a hypoplastic left atrium […]
Metformin Alleviates Inflammation and Induces Mitophagy in Human Retinal Pigment Epithelium Cells Suffering from Mitochondrial Damage
Cells. 2024 Aug 27;13(17):1433. doi: 10.3390/cells13171433. ABSTRACT Mitochondrial malfunction, excessive production of reactive oxygen species (ROS), deficient autophagy/mitophagy, and chronic inflammation are hallmarks of age-related macular degeneration (AMD). Metformin has been shown to activate mitophagy, alleviate inflammation, and lower the odds of developing AMD. Here, we explored the ability of metformin to activate mitophagy and […]
Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema
Orphanet J Rare Dis. 2024 Sep 13;19(1):341. doi: 10.1186/s13023-024-03306-7. ABSTRACT BACKGROUND: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. Despite its severity, there is a notable lack of effective methods for predicting and preventing HAE attacks. This study aims to thoroughly investigate the underlying […]
Unveiling the Therapeutic Potential and Mechanisms of Stanniocalcin-1 in Retinal Degeneration
Surv Ophthalmol. 2024 Sep 11:S0039-6257(24)00085-7. doi: 10.1016/j.survophthal.2024.08.001. Online ahead of print. ABSTRACT Retinal degeneration (RD) is a group of ocular diseases characterized by progressive photoreceptor apoptosis and visual impairment. Mitochondrial malfunction, excessive oxidative stress, and chronic activation of neuroglia collectively contribute to the development of RD. Currently, there is a lack of efficacious therapeutic interventions […]
FABP5 Is a Possible Factor for the Maintenance of Functions of Human Non-Pigmented Ciliary Epithelium Cells
Int J Mol Sci. 2024 Aug 27;25(17):9285. doi: 10.3390/ijms25179285. ABSTRACT To elucidate the possible biological roles of fatty acid-binding protein 5 (FABP5) in the intraocular environment, the cells from which FABP5 originates were determined by using four different intraocular tissue-derived cell types including human non-pigmented ciliary epithelium (HNPCE) cells, retinoblastoma (RB) cells, adult retinal pigment […]
Hypoxia-induced BNIP3 facilitates the progression and metastasis of uveal melanoma by driving metabolic reprogramming
Autophagy. 2024 Sep 12:1-19. doi: 10.1080/15548627.2024.2395142. Online ahead of print. ABSTRACT Uveal melanoma (UM) is an aggressive intraocular malignancy derived from melanocytes in the uvea tract of the eye. Up to 50% of patients with UM develop distant metastases which is usually fatal within one year; preventing metastases is therefore essential. Metabolic reprogramming plays a […]
Heme: A link between hemorrhage and retinopathy of prematurity progression
Redox Biol. 2024 Aug 16;76:103316. doi: 10.1016/j.redox.2024.103316. Online ahead of print. ABSTRACT Neovascularization is implicated in the pathology of retinopathy of prematurity (ROP), diabetic retinopathy (DR), and age-related macular degeneration (AMD), which are the leading causes of blindness worldwide. In our work, we analyzed how heme released during hemorrhage affects hypoxic response and neovascularization. Our […]
Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care
Aust N Z J Obstet Gynaecol. 2024 Sep 11. doi: 10.1111/ajo.13874. Online ahead of print. ABSTRACT Mitochondrial donation to reduce the risk of primary mitochondrial disease transmission from mother to child is now permitted under Australian law as part of a clinical trial. The energy demands of pregnancy have the potential to worsen mitochondrial disease […]