Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities

Curr Opin Neurol. 2024 Dec 23. doi: 10.1097/WCO.0000000000001343. Online ahead of print. ABSTRACT PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA disease characterised by sequential bilateral vision loss due to loss of retinal ganglion cells. The purpose of this review is to provide an update on the results of recent clinical […]

Proteomic Alterations in Retinal Müller Glial Cells Lacking Interleukin-6 Receptor: A Comprehensive Analysis

Invest Ophthalmol Vis Sci. 2024 Dec 2;65(14):33. doi: 10.1167/iovs.65.14.33. ABSTRACT PURPOSE: Interleukin-6 (IL-6) is an inflammatory cytokine implicated in various retinal pathologies and functions primarily through two signaling pathways: cis-signaling via IL-6 binding to its membrane-bound receptor (IL-6Rα), and trans-signaling via IL-6 binding to soluble IL-6 receptor (sIL-6R). Because the differential effects of IL-6 signaling […]

Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy

JAMA Ophthalmol. 2024 Dec 19. doi: 10.1001/jamaophthalmol.2024.5375. Online ahead of print. ABSTRACT IMPORTANCE: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON). OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after […]

Transcriptomic analysis of plasma-derived small extracellular vesicles reveals the pathological characteristics of normal tension glaucoma

Extracell Vesicles Circ Nucl Acids. 2024 Aug 19;5(3):438-454. doi: 10.20517/evcna.2024.45. eCollection 2024. ABSTRACT AIM: Normal tension glaucoma (NTG) is a common optic neuropathy that can be challenging to diagnose due to the intraocular pressure remaining within the normal range. Early diagnosis and intervention are crucial for the effective lifelong management of patients. METHODS: This study […]

Role of PI3K/AKT/MAOA in glucocorticoid-induced oxidative stress and associated premature senescence of the trabecular meshwork

Aging Cell. 2024 Dec 17:e14452. doi: 10.1111/acel.14452. Online ahead of print. ABSTRACT The oxidative stress-induced premature senescence of trabecular meshwork (TM) represents a pivotal risk factor for the development of glucocorticoid-induced glaucoma (GIG). This study aimed to elucidate the pathogenesis of TM senescence in GIG. MethodsIntraocular pressure (IOP), transmission electron microscopy and senescence-associated protein expression […]

Mitochondrial Function and Oxidative Stress Biomarkers in Diabetic Retinopathy Development: An Analytical Cross-Sectional Study

Int J Mol Sci. 2024 Dec 5;25(23):13084. doi: 10.3390/ijms252313084. ABSTRACT DR is a complex complication of DM with multiple biochemical pathways implicated in its genesis and progression. Circulating OS and mitochondrial function biomarkers represent potential candidates in the DR staging system. We conducted a comparative cross-sectional study comparing the OS biomarkers: TAC, GR, NOS, CARB, […]

Decoding Neurodegeneration: A Review of Molecular Mechanisms and Therapeutic Advances in Alzheimer’s, Parkinson’s, and ALS

Int J Mol Sci. 2024 Nov 24;25(23):12613. doi: 10.3390/ijms252312613. ABSTRACT Neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, ALS, and Huntington’s, remain formidable challenges in medicine, with their relentless progression and limited therapeutic options. These diseases arise from a web of molecular disturbances-misfolded proteins, chronic neuroinflammation, mitochondrial dysfunction, and genetic mutations-that slowly dismantle neuronal integrity. Yet, recent […]

Parafoveal Microperimetric Retinal Sensitivity as a Key Parameter Associated with Vision Loss in Retinitis Pigmentosa

Diagnostics (Basel). 2024 Nov 29;14(23):2691. doi: 10.3390/diagnostics14232691. ABSTRACT Background: Although optical coherence tomography (OCT) is useful in determining outer retinal architecture, it may be suboptimal when monitoring subtle changes in retinitis pigmentosa (RP) patients. The aim of this study is to investigate precise microperimetric parameters for disease severity identification in RP patients. Methods: A cross-sectional […]

Sirtuins as Key Regulators in Pancreatic Cancer: Insights into Signaling Mechanisms and Therapeutic Implications

Cancers (Basel). 2024 Dec 6;16(23):4095. doi: 10.3390/cancers16234095. ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) stands as one of the most lethal cancers, marked by rapid progression, pronounced chemoresistance, and a complex network of genetic and epigenetic dysregulation. Within this challenging context, sirtuins, NAD+-dependent deacetylases, have emerged as pivotal modulators of key cellular processes that drive pancreatic cancer […]