ArticleScientific reports2014
A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Disease-causing MFN2 mutants impair mitochondrial fission dynamics by distinct DRP1 dysregulation.Cell death & disease · 2026Article
- Mitochondrial protein dysfunction in pathogenesis of neurological diseases.Frontiers in molecular neuroscience · 2022Review
- CRISPR/Cas9-mediated mutagenesis at microhomologous regions of human mitochondrial genome.Science China. Life sciences · 2021Article
- Manual Acupuncture for Optic Atrophy: A Systematic Review and Meta-Analysis.Evidence-based complementary and alternative medicine : eCAM · 2019Review
- Targeted next-generation sequencing extends the mutational spectrums forMolecular vision · 2019Article
- Mitochondrial fission and fusion in secondary brain damage after CNS insults.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2016Review
- Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Scientific reports · 2016Article
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Authors and funding
13 authors at 3 institutions in 1 country.
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Abstract
Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.
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