Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function
Mol Ther Nucleic Acids. 2024 Jun 17;35(3):102257. doi: 10.1016/j.omtn.2024.102257. eCollection 2024 Sep 10. ABSTRACT Mutations in nuclear genes regulating mitochondrial DNA (mtDNA) replication are associated with mtDNA depletion syndromes. Using whole-genome sequencing, we identified a heterozygous mutation (c.272G>A:p.Arg91Gln) in single-stranded DNA-binding protein 1 (SSBP1), a crucial protein involved in mtDNA replisome. The proband manifested symptoms […]
A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding’s Disease
Eye Brain. 2024 Jul 29;16:17-24. doi: 10.2147/EB.S470184. eCollection 2024. ABSTRACT Leber Hereditary Optic Neuropathy (LHON) stands as a distinctive maternally inherited mitochondrial disorder marked by painless, subacute central vision loss, primarily affecting young males. This review covers the possible relationship between LHON and multiple sclerosis (MS), covering genetic mutations, clinical presentations, imaging findings, and treatment […]
Mitochondrial control of hypoxia-induced pathological retinal angiogenesis
Angiogenesis. 2024 Aug 3. doi: 10.1007/s10456-024-09940-w. Online ahead of print. ABSTRACT OBJECTIVE: Pathological retinal neovascularization is vision-threatening. In mouse oxygen-induced retinopathy (OIR) we sought to define mitochondrial respiration changes longitudinally during hyperoxia-induced vessel loss and hypoxia-induced neovascularization, and to test interventions addressing those changes to prevent neovascularization. METHODS: OIR was induced in C57BL/6J mice and […]
G-quadruplex-Based Artificial Transmembrane Channels Induce Cancer Cell Apoptosis by Perturbing Potassium Ion Homeostasis
Adv Healthc Mater. 2024 Aug 2:e2402023. doi: 10.1002/adhm.202402023. Online ahead of print. ABSTRACT Transmembrane ion transport modality has received a widespread attention due to its apoptotic activation toward anticancer cell activities. In this study, G-quadruplex-based potassium-specific transmembrane channels have been developed to facilitate the intracellular K+ efflux, which perturbs the cellular ion homeostasis thereby inducing […]
Corosolic acid attenuates cardiac ischemia/reperfusion injury through the PHB2/PINK1/parkin/mitophagy pathway
iScience. 2024 Jul 8;27(8):110448. doi: 10.1016/j.isci.2024.110448. eCollection 2024 Aug 16. ABSTRACT Despite advances in treatment, myocardial infarction remains the leading cause of heart failure and death worldwide, and the restoration of coronary blood flow can also cause heart damage. In this study, we found that corosolic acid (CA), also known as plant insulin, significantly protects […]
Ferroptosis contributes to diabetes-induced visual pathway neuronal damage via iron accumulation and GPX4 inactivation
Metab Brain Dis. 2024 Jul 30. doi: 10.1007/s11011-024-01398-5. Online ahead of print. ABSTRACT The damage of the diabetic visual pathway is one of the main causes of blindness in diabetic patients. Visual pathways include anatomic parts from the retina to the occipital lobe. This study investigated the involvement of ferroptosis, a planned cell death brought […]
TIN2 modulates FOXO1 mitochondrial shuttling to enhance oxidative stress-induced apoptosis in retinal pigment epithelium under hyperglycemia
Cell Death Differ. 2024 Jul 30. doi: 10.1038/s41418-024-01349-8. Online ahead of print. ABSTRACT Progressive dysfunction of the retinal pigment epithelium (RPE) and the adjacent photoreceptor cells in the outer retina plays a pivotal role in the pathogenesis of diabetic retinopathy (DR). Here, we observed a marked increase in oxidative stress-induced apoptosis in parallel with higher […]
Axonal mitophagy in retinal ganglion cells
Cell Commun Signal. 2024 Jul 29;22(1):382. doi: 10.1186/s12964-024-01761-0. ABSTRACT Neurons, exhibiting unique polarized structures, rely primarily on the mitochondrial production of ATP to maintain their hypermetabolic energy requirements. To maintain a normal energy supply, mitochondria are transported to the distal end of the axon. When mitochondria within the axon are critically damaged beyond their compensatory […]
The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease
Diagnostics (Basel). 2024 Jul 17;14(14):1545. doi: 10.3390/diagnostics14141545. ABSTRACT Stargardt disease (STGD1), associated with biallelic variants in the ABCA4 gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We used clinical data to identify macular regions with surviving STGD1 photoreceptors. We compared the […]
A Preliminary Study of the Occurrence of Genetic Changes in mtDNA in the Muscles in Children Treated for Strabismus
J Clin Med. 2024 Jul 10;13(14):4041. doi: 10.3390/jcm13144041. ABSTRACT Background: The dysregulation of extraocular muscles (EOMs) in the strabismus may be partly due to modification in the mitochondrial DNA (mtDNA). Currently, little is known about changes occurring in mtDNA of EOMs in patients with strabismus, therefore the aim of our study was to analyze if […]