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Abstract #79230 Published in IGR 20-1
Investigation of whole mitochondrial genome variation in normal tension glaucoma
Piotrowska-Nowak A; Kosior-Jarecka E; Schab A; Wrobel-Dudzinska D; Bartnik E; Zarnowski T; Tonska KExperimental Eye Research 2019; 178: 186-197
Glaucoma is one of the leading causes of visual impairment and blindness worldwide. However, the cause of retinal ganglion cell loss and damage of the optic nerve in its pathogenesis is largely unknown. The high energy demands of these cells may reflect their strong dependence on mitochondrial function and thus sensitivity to mitochondrial defects. To address this issue, we studied whole mitochondrial genome variation in normal tension glaucoma patients and control individuals from the Polish population using next generation sequencing. Our findings indicate that few features of mitochondrial DNA variation are different for glaucoma patients and control subjects. New insights into normal tension glaucoma development are discussed. We provide also a comprehensive approach for mitochondrial DNA analysis and variant evaluation.
Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a Street, Warsaw, 02-106, Poland. Electronic address: apiotrowska@biol.uw.edu.pl.
Full articleClassification:
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
