A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis
Sci Rep. 2017 Jul 18;7(1):5704. doi: 10.1038/s41598-017-05571-y. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated with mutations in OPA1 gene. Our previous investigation identified the c.1198C > G (p.P400A) mutation in the OPA1 […]
Pupillometric evaluation of the melanopsin containing retinal ganglion cells in mitochondrial and non-mitochondrial optic neuropathies
Mitochondrion. 2017 Sep;36:124-129. doi: 10.1016/j.mito.2017.07.003. Epub 2017 Jul 14. ABSTRACT In recent years, chromatic pupillometry is used in humans to evaluate the activity of melanopsin expressing intrinsic photosensitive retinal ganglion cells (ipRGCs). Blue light is used to stimulate the ipRGCs and red light activates the rod/cone photoreceptors. The late re-dilation phase of pupillary light reflex […]
Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation
Front Cell Dev Biol. 2018 Sep 19;6:103. doi: 10.3389/fcell.2018.00103. eCollection 2018. ABSTRACT Background: Autosomal dominant optic atrophy (ADOA) is usually caused by mutations in the essential gene, OPA1. This encodes a ubiquitous protein involved in mitochondrial dynamics, hence tissue specificity is not understood. Dysregulated mitophagy (mitochondria recycling) is implicated in ADOA, being increased in OPA1 […]
Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China
Mitochondrion. 2019 May;46:327-333. doi: 10.1016/j.mito.2018.09.002. Epub 2018 Sep 7. ABSTRACT We report the results of molecular screening in 121 patients with suspected hereditary optic neuropathies. The 34 primary and 9 secondary LHON mutations were screened in all the patients. In the familial cases, OPA1 was also tested when negative finding for the mtDNA mutations screening. […]
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy
Mitochondrion. 2019 May;46:262-269. doi: 10.1016/j.mito.2018.07.006. Epub 2018 Aug 27. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of […]
Sensitive Analysis of Sialic Acid and Related Compound by Hydrophilic Interaction Liquid Chromatography Using Fluorescence Detection after Derivatization with DBD-PZ
Anal Sci. 2018;34(7):841-844. doi: 10.2116/analsci.18N001. ABSTRACT N-Acetylneuraminic acid (NANA) has been reported to react with hydrogen peroxide in vitro to produce 4-(acetylamino)-2,4-dideoxy-D-glycero-D-galacto-octonic acid (ADOA). We labeled NANA and ADOA with 4-(N,N-dimethylaminosulfonyl)-7-piperazino-2,1,3-benzoxadiazole (DBD-PZ) for simultaneous detection. The derivatized NANA and ADOA were separated using hydrophilic interaction liquid chromatography (HILIC) with fluorescence detection. The calibration curves of […]
Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant
J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20. NO ABSTRACT PMID:31973973 | DOI:10.1016/j.jfo.2019.08.008
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. […]
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
Metab Brain Dis. 2019 Aug;34(4):1023-1027. doi: 10.1007/s11011-019-00425-0. Epub 2019 Jun 1. ABSTRACT OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic […]
Metabolic stroke in a patient with bi-allelic OPA1 mutations
Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. ABSTRACT OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder. We describe metabolic stroke in a patient with bi-allelic OPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that […]