Clinically Diagnosed Occult Macular Dystrophy Habouring an m.14502T>C Mitochondrial DNA Mutation Associated with Leber’s Hereditary Optic Neuropathy: Case Report and Literature Review

Neuroophthalmology. 2023 Jul 5;47(5-6):285-290. doi: 10.1080/01658107.2023.2231077. eCollection 2023. ABSTRACT A 29-year-old female with no family history presented with bilateral progressive blurred vision. Her symptoms appeared at 12-years-old and her visual acuity had since deteriorated from 0.6 to 0.2 bilaterally with decreased critical flicker frequency and bilateral central scotomas. She did not have a relative afferent […]

Exercise combined with postbiotics treatment results in synergistic improvement of mitochondrial function in the brain of male transgenic mice for Alzheimer’s disease

BMC Neurosci. 2023 Dec 18;24(1):68. doi: 10.1186/s12868-023-00836-x. ABSTRACT BACKGROUND: It has been suggested that exercise training and postbiotic supplement could decelerate the progress of functional and biochemical deterioration in double transgenic mice overexpresses mutated forms of the genes for human amyloid precursor protein (APPsw) and presenilin 1 (m146L) (APP/PS1TG). Our earlier published data indicated that […]

Lens epithelium cell ferroptosis mediated by m6A-lncRNA and GPX4 expression in lens tissue of age-related cataract

BMC Ophthalmol. 2023 Dec 18;23(1):514. doi: 10.1186/s12886-023-03205-8. ABSTRACT BACKGROUND: In the present study, we explored the role of N6-methyladenosine (m6A) modification of long non-coding RNAs (lncRNAs) and its association with ferroptosis in lens epithelium cells (LECs) of age-related cataract (ARC). METHODS: Through m6A RNA immunoprecipitation sequencing (m6A-RIP-seq) and RNA sequencing (RNA-seq), we identified m6A mediated […]

Electroacupuncture alleviates ciliary muscle cell apoptosis in lens-induced myopic guinea pigs through inhibiting the mitochondrial signaling pathway

Int J Ophthalmol. 2023 Dec 18;16(12):1942-1951. doi: 10.18240/ijo.2023.12.05. eCollection 2023. ABSTRACT AIM: To investigate the effect of electroacupuncture (EA) on the mitochondria-dependent apoptotic signaling pathway in the ciliary muscle of guinea pigs with negative lens-induced myopia (LIM). METHODS: Guinea pigs were randomly divided into normal control (NC) group, LIM group, LIM+SHAM acupoint (LIM+SHAM) group, and […]

Modeling aging and retinal degeneration with mitochondrial DNA mutation burden

bioRxiv. 2023 Dec 1:2023.11.30.569464. doi: 10.1101/2023.11.30.569464. Preprint. ABSTRACT Somatic mitochondrial DNA (mtDNA) mutation accumulation has been observed in individuals with retinal degenerative disorders. To study the effects of aging and mtDNA mutation accumulation in the retina, a Polymerase gamma (POLG) deficiency model, the POLGD257A mutator mice (PolgD257A), was used. POLG is an enzyme responsible for […]

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

Front Neurol. 2023 Dec 1;14:1292320. doi: 10.3389/fneur.2023.1292320. eCollection 2023. ABSTRACT BACKGROUND: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in […]

Association of NLRPs with pathogenesis of dry age-related macular degeneration

Int Ophthalmol. 2023 Dec;43(12):4869-4878. doi: 10.1007/s10792-023-02889-7. Epub 2023 Nov 8. ABSTRACT BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population, and Dry AMD is the most common clinical subtype. However, effective measures for the early diagnosis and treatment of dry AMD have not been proposed. In recent years, NOD-like […]

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function

Stem Cell Reports. 2023 Nov 27:S2213-6711(23)00453-8. doi: 10.1016/j.stemcr.2023.11.004. Online ahead of print. ABSTRACT Autosomal dominant optic atrophy (ADOA), mostly caused by heterozygous OPA1 mutations and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one of the most common types of inherited optic neuropathies. Previous work using a two-dimensional (2D) differentiation model […]

Mitochondrial transplantation attenuates oligomeric amyloid-beta-induced mitochondrial dysfunction and tight junction protein destruction in retinal pigment epithelium

Free Radic Biol Med. 2023 Dec 13:S0891-5849(23)01157-7. doi: 10.1016/j.freeradbiomed.2023.12.012. Online ahead of print. ABSTRACT Transplantation of mitochondria derived from mesenchymal stem cells (MSCs) has emerged as a new treatment method to improve mitochondrial dysfunction and alleviate cell impairment. Interest in using extrinsic mitochondrial transplantation as a therapeutic approach has been increasing because it has been […]