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Article

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.

Scientific reports - 18 Jul 2017

Zhang Juanjuan, Liu Xiaoling, Liang Xiaoyang, Lu Yuanyuan, Zhu Ling, Fu Runing, Ji Yanchun, Fan Wenlu, Chen Jie, Lin Bing, Yuan Yimin, Jiang Pingping, Zhou Xiangtian, Guan Min-Xin

Abstract excerpt

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 in a large Han Chinese family with ADOA. In this report, we performed a functional characterization...

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Identifiers

PMID: 28720802
DOI: 10.1038/s41598-017-05571-y
PMCID: PMC5515948

Genes

OPA1

Variants

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