Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2
Mov Disord. 2023 Nov 30. doi: 10.1002/mds.29675. Online ahead of print. ABSTRACT BACKGROUND: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. OBJECTIVE: The aim was to investigate optic disc and retinal architecture in SCA2. […]
Non-apoptotic regulated cell death in Fuchs endothelial corneal dystrophy
Regen Ther. 2023 Nov 10;24:592-601. doi: 10.1016/j.reth.2023.11.001. eCollection 2023 Dec. ABSTRACT INTRODUCTION: Fuchs endothelial corneal dystrophy (FECD) is the leading cause of corneal blindness in developed countries. Corneal endothelial cells in FECD are susceptive to oxidative stress, leading to mitochondrial dysfunction and cell death. Oxidative stress causes many forms of cell death including parthanatos, which […]
Effect of Humanin G (HNG) on Angiogenesis and Neurodegeneration markers in Age-related Macular Degeneration (AMD)
Mitochondrion. 2023 Nov 27:S1567-7249(23)00090-9. doi: 10.1016/j.mito.2023.11.001. Online ahead of print. ABSTRACT Advanced stages of Age-related Macular Degeneration (AMD) are characterized by retinal neurodegeneration and aberrant angiogenesis, and mitochondrial dysfunction contributes to the pathogenesis of AMD. In this study, we tested the hypothesis that Humanin G (HNG), a cytoprotective Mitochondrial-Derived Peptide, positively regulates cell proliferation, cell […]
The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases
J Lasers Med Sci. 2023 Oct 10;14:e41. doi: 10.34172/jlms.2023.41. eCollection 2023. ABSTRACT Introduction: Despite a wide variety of clinical presentations in hereditary Mitochondrial Diseases, muscle fatigue is a common theme and impairs a patient’s quality of life and ability to function. Current treatments are only supportive and include nutritional supplementation and physical therapy. Photobiomodulation therapy […]
Leber’s hereditary optic neuropathy: Update on the novel genes and therapeutic options
J Chin Med Assoc. 2023 Nov 28. doi: 10.1097/JCMA.0000000000001031. Online ahead of print. ABSTRACT A maternal inheritance disorder called Leber’s hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA disorder. In most studies, there are more male patients than female patients, which contradicts the usual pattern in mitochondrial hereditary diseases. This suggests that […]
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Hum Genomics. 2023 Nov 27;17(1):108. doi: 10.1186/s40246-023-00557-6. ABSTRACT Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret clinically relevant genetic variants in human diseases. Therefore, it is crucial to develop appropriate analytical tools to improve the interpretation of disease variants. Given the unique genetic characteristics of […]
Genetically Proxied Therapeutic Effect of Metformin Use, Blood Pressure, and Hypertension’s Risk: a Drug Target-Based Mendelian Randomization Study
J Cardiovasc Transl Res. 2023 Nov 27. doi: 10.1007/s12265-023-10460-z. Online ahead of print. ABSTRACT In this work, we aim to evaluate the association of the genetically proxied effect of metformin on blood pressure (BP) and hypertension through a drug target-based Mendelian randomization (MR) analysis. Thirty-two instrumental variables for five metformin targets (i.e., AMP-activated protein kinase […]
Systemic Evidence for Mitochondrial Dysfunction in Age-Related Macular Degeneration as Revealed by mtDNA Copy Number Measurements in Peripheral Blood
Int J Mol Sci. 2023 Nov 16;24(22):16406. doi: 10.3390/ijms242216406. ABSTRACT Mitochondrial dysfunction is a common occurrence in the aging process and is observed in diseases such as age-related macular degeneration (AMD). Increased levels of reactive oxygen species lead to damaged mitochondrial DNA (mtDNA), resulting in dysfunctional mitochondria, and, consequently, mtDNA causes further harm in the […]
HLA-Homozygous iPSC-Derived Mesenchymal Stem Cells Rescue Rotenone-Induced Experimental Leber’s Hereditary Optic Neuropathy-like Models In Vitro and In Vivo
Cells. 2023 Nov 13;12(22):2617. doi: 10.3390/cells12222617. ABSTRACT BACKGROUND: Mesenchymal stem cells (MSCs) hold promise for cell-based therapy, yet the sourcing, quality, and invasive methods of MSCs impede their mass production and quality control. Induced pluripotent stem cell (iPSC)-derived MSCs (iMSCs) can be infinitely expanded, providing advantages over conventional MSCs in terms of meeting unmet clinical […]
The protective effects of beta-mangostin against sodium iodate-induced retinal ROS-mediated apoptosis through MEK/ERK and p53 signaling pathways
Food Funct. 2023 Nov 22. doi: 10.1039/d3fo03568a. Online ahead of print. ABSTRACT Previous studies have indicated that NaIO3 induces intracellular reactive oxygen species (ROS) production and has been used as a model for age-related macular degeneration (AMD) due to the selective retinal pigment epithelium (RPE) cell damage it induces. Beta-mangostin (BM) is a xanthone-type natural […]