Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene

Journal of the Neurological Sciences
Patrizia FormichiAntonio Federico

Abstract

Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy characterized by bilateral symmetrical visual loss, decrease in retinal ganglion cells and a loss of myelin within the optic nerve. ADOA is associated to mutations in Optic atrophy 1 gene (OPA1), which encodes a mitochondrial protein involved in cristae remodeling, maintenance of mitochondrial membrane integrity, mitochondrial fusion and apoptosis regulation. We thus evaluated the rate of apoptosis and the expression levels of OPA1 isoforms in ADOA and control cells. Peripheral blood lymphocytes from eight patients with OPA1 mutation and age matched controls were cultivated both in basal conditions or with 2-deoxy-D-ribose, a reducing sugar that induces apoptosis through oxidative stress. Apoptosis was analyzed by flow cytometry, phosphatidylserine translocation, mitochondrial membrane depolarization and caspase 3 activation. We also analyzed the expression levels of OPA1 isoforms in ADOA and control cells cultured with and without 2-deoxy-D-ribose. We showed an increased percentage of apoptotic cells in ADOA patients compared to controls, both in basal culture conditions and after 2-deoxy-D-ribose treatment. This suggested a great susceptibility of ADOA c...Continue Reading

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Citations

Mar 3, 2012·Biochemical and Biophysical Research Communications·Juanjuan ZhangMin-Xin Guan
Jan 22, 2013·Gene·Kristel Kaer, Mart Speek
Feb 5, 2019·Evidence-based Complementary and Alternative Medicine : ECAM·Fang-Yuan ZhiCui-Hong Zhang
Jun 17, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Pauline RobertLaurent Loufrani

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