Serum NT/CT SIRT1 ratio reflects early osteoarthritis and chondrosenescence
Ann Rheum Dis. 2020 Oct;79(10):1370-1380. doi: 10.1136/annrheumdis-2020-217072. Epub 2020 Jul 14. ABSTRACT OBJECTIVE: Previous work has established that the deacetylase sirtuin-1 (SIRT1) is cleaved by cathepsin B in chondrocytes subjected to proinflammatory stress, yielding a stable but inactive N-terminal (NT) polypeptide (75SIRT1) and a C-terminal (CT) fragment. The present work examined if chondrocyte-derived NT-SIRT1 is […]
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
Acta Neuropathol Commun. 2020 Jun 29;8(1):93. doi: 10.1186/s40478-020-00975-w. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases remain undiagnosed.Here, we describe a family with a strong ADOA history […]
Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility
Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):42. doi: 10.1167/iovs.61.6.42. ABSTRACT PURPOSE: Retinal ganglion cells (RGCs) are susceptible to mitochondrial deficits and also the major cell type affected in patients with mutations in the OPA1 gene in autosomal dominant optic atrophy (ADOA). Here, we characterized mitochondria in RGCs in vitro from a heterozygous B6; C3-Opa1Q285STOP (Opa1+/-) […]
Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy
Invest Ophthalmol Vis Sci. 2020 May 11;61(5):9. doi: 10.1167/iovs.61.5.9. ABSTRACT PURPOSE: To compare lamina cribrosa (LC) morphology in patients with normal tension glaucoma (NTG) and autosomal-dominant optic atrophy (ADOA). METHODS: This cross-sectional study matched 24 patients diagnosed with ADOA (24 eyes) by age and retinal nerve fiber layer thickness with 48 patients diagnosed with NTG […]
Synthesis of Dideoxy-octonic Acid and Cyclic and Acyclic Derivatives Thereof
Org Lett. 2020 May 1;22(9):3373-3376. doi: 10.1021/acs.orglett.0c00842. Epub 2020 Apr 13. ABSTRACT Oxidative cleavage of N-acetyl-neuraminic acid (Neu5Ac, 1) leads to the open chain octonic acid (ADOA, 2), which under various conditions is transformed into an acyclic acid or ester or into a six- or five-membered octonic acid lactone and lactam, respectively. All reactions proceed […]
A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1
Front Neurol. 2021 Apr 13;12:641259. doi: 10.3389/fneur.2021.641259. eCollection 2021. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is an ophthalmological condition associated primarily with mutations in the OPA1 gene. It has variable onset, sometimes juvenile, but in other patients, the disease does not manifest until adult middle age despite the presence of a pathological mutation. Thus, individuals […]
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants
Mol Genet Genomics. 2021 Jul;296(4):845-862. doi: 10.1007/s00438-021-01783-0. Epub 2021 Apr 21. ABSTRACT Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. About 60-90% of ADOA is caused by the pathogenic variants of OPA1 gene. By evaluating the pathogenicity of OPA1 variants and summarizing the relationship between the […]
OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling
Front Cell Dev Biol. 2022 Jan 3;9:774108. doi: 10.3389/fcell.2021.774108. eCollection 2021. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA), a disease that causes blindness and other neurological disorders, is linked to OPA1 mutations. OPA1, dependent on its GTPase and GED domains, governs inner mitochondrial membrane (IMM) fusion and cristae organization, which are central to oxidative metabolism. Mitochondrial […]
An aptamer-tethered DNA origami amplifier for sensitive and accurate imaging of intracellular microRNA
Nanoscale. 2022 Jan 27;14(4):1327-1332. doi: 10.1039/d1nr06399e. ABSTRACT Accurate detection and imaging of low-abundance microRNA (miRNA) in living cells are essential for the diagnosis and prognosis of diseases. Designing nanoprobes with resistance to enzyme degradation, effective cell-binding, and efficient signal amplification is crucial for in vivo imaging. In this study, we present an aptamer-tethered DNA origami […]
Mitochondrial Retinopathies
Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. ABSTRACT The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the most common clinical entities. Both can present as isolated or […]