SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. ABSTRACT OBJECTIVE: Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown. […]
Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy
Nat Commun. 2020 Aug 12;11(1):4029. doi: 10.1038/s41467-020-17821-1. ABSTRACT In autosomal dominant optic atrophy (ADOA), caused by mutations in the mitochondrial cristae biogenesis and fusion protein optic atrophy 1 (Opa1), retinal ganglion cell (RGC) dysfunction and visual loss occur by unknown mechanisms. Here, we show a role for autophagy in ADOA pathogenesis. In RGCs expressing mutated […]
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 […]
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry
Ophthalmic Genet. 2022 Feb;43(1):42-47. doi: 10.1080/13816810.2021.1970197. Epub 2021 Aug 23. ABSTRACT BACKGROUND: Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical […]
Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy
Cell Death Differ. 2022 Jan;29(1):167-177. doi: 10.1038/s41418-021-00847-3. Epub 2021 Aug 13. ABSTRACT Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers linking mitochondrial dysfunction to initiation of mitophagy remain poorly […]
In Vivo Imaging of the Schlemm’s Canal and the Response to Selective Laser Trabeculoplasty
Am J Ophthalmol. 2022 Feb;234:126-137. doi: 10.1016/j.ajo.2021.07.002. Epub 2021 Jul 18. ABSTRACT OBJECTIVE: To evaluate the presence of angle dysgenesis on ASOCT (anterior segment optical coherence tomography) (ADoA) as a predictive factor in determining outcomes of selective laser trabeculoplasty (SLT). DESIGN: A prospective clinical cohort study. SUBJECTS: Patients with juvenile-onset open-angle glaucoma (JOAG) without angle […]
Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy
Acta Ophthalmol. 2022 May;100(3):e798-e806. doi: 10.1111/aos.14972. Epub 2021 Jul 11. ABSTRACT PURPOSE: To assess retinal vascular involvement in patients with autosomal dominant optic atrophy (ADOA) genetically confirmed by the presence of the OPA1 (Optic Atrophy 1) gene mutation using a multimodal protocol of investigation of retinal posterior pole. METHODS: In this cross-sectional, case-control, observational study, […]
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 […]