In vivo measurement of mitochondrial ROS production in mouse models of photoreceptor degeneration
Redox Biochem Chem. 2023 Dec;5-6:None. doi: 10.1016/j.rbc.2023.100007. ABSTRACT Retinitis pigmentosa (RP) is a disease characterised by photoreceptor cell death. It can be initiated by mutations in a number of different genes, primarily affecting rods, which will die first, resulting in loss of night vision. The secondary death of cones then leads to loss of visual […]
Do multiple physiological OCT biomarkers indicate age-related decline in rod mitochondrial function in C57BL/6J mice?
Front Neurosci. 2023 Nov 17;17:1280453. doi: 10.3389/fnins.2023.1280453. eCollection 2023. ABSTRACT PURPOSE: To test the hypothesis that rod photoreceptor mitochondria function in vivo progressively declines over time. METHODS: 2, 12, and 24 month-old dark- and light-adapted C57BL/6J (B6J) mice were examined by OCT. We measured (i) an index of mitochondrial configuration within photoreceptors measured from the […]
Carnitine palmitoyl-transferase 1A is potentially involved in bovine herpesvirus 1 productive infection
Vet Microbiol. 2023 Nov 30;288:109932. doi: 10.1016/j.vetmic.2023.109932. Online ahead of print. ABSTRACT Bovine herpesvirus 1(BoHV-1) is an important bovine pathogen that causes great economic loss to cattle farms worldwide. The virus-productive infection in bovine kidney (MDBK) cells results in ATP depletion. The mechanisms are not well understood. Mitochondrial fatty acid β-oxidation (FAO) is an important […]
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 […]