Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

•Knockdown of the mitochondrial protein Opa1 evokes enhanced mitochondrial Ca2+ uptake.•In humans defect of OPA1 gene induces autosomal dominant optic atrophy (ADOA).•We studied mitochondrial Ca2+ metabolism in fibroblasts of ADOA patients.•The symptoms of visual malfunction correlated with mitochon...

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Veröffentlicht in:	Cell calcium (Edinburgh) 2015-01, Vol.57 (1), p.49-55
Hauptverfasser:	Fülöp, László, Rajki, Anikó, Maka, Erika, Molnár, Mária Judit, Spät, András
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Advanced Basic Science Apoptosis Bradykinin - pharmacology Calcium - metabolism Calcium ion Calcium Signaling - drug effects Cells, Cultured Child Evoked Potentials - drug effects Female Fibroblast Fibroblasts - cytology Fibroblasts - metabolism Ganglion cell GTP Phosphohydrolases - genetics Humans Introns Male Microscopy, Confocal Mitochondria Mitochondria - metabolism OPA1 Optic atrophy Optic Atrophy, Autosomal Dominant - metabolism Optic Atrophy, Autosomal Dominant - pathology Oxidative Stress Pedigree Polymorphism, Single Nucleotide Severity of Illness Index
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