International Multiconference “Bioinformatics of Genome Regulation and Structure\Systems Biology”

Tag

glaucoma

2 RESULTS
Systems Biology and Biomedicine symposiumHuman retinal photoreceptor cells in glaucoma: destructive changes of mithochondria and mitophagy

Human retinal photoreceptor cells in glaucoma: destructive changes of mithochondria and mitophagy

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Poster (download)

[pdf-embedder url=”https://bgrssb.icgbio.ru/wp-content/uploads/2020/07/175.pdf”]
Natalia Obanina1, Nataliya Bgatova2, Valerii Chernykh3, Aleksandr Trunov4, Alena Eremina5, Vladimir Konenkov6
1Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Section of cytology and genetics, Department of Natural Sciences, Novosibirsk State University, n.obanina@g.nsu.ru
2Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, n_bgatova@ngs.ru
3The academician S.N. Fyodorov Federal State Institution “Intersectoral Research and Technology Complex “Eye Microsurgery”, Ministry of Healthcare of Russian Federation, Novosibirsk Branch, rimma@mntk.nsk.ru
4The academician S.N. Fyodorov Federal State Institution “Intersectoral Research and Technology Complex “Eye Microsurgery”, Ministry of Healthcare of Russian Federation, Novosibirsk Branch, trunov1963@yandex.ru
5The academician S.N. Fyodorov Federal State Institution “Intersectoral Research and Technology Complex “Eye Microsurgery”, Ministry of Healthcare of Russian Federation, sci@mntk.nsk.ru
6Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, vikonenkov@gmail.com

The leading place in the development of low vision and blindness worldwide is occupied by glaucoma. This disease is non-infectious in nature, accompanied by an increase in intraocular pressure and degeneration of neurons of the retina, optic nerve, as well as its spread in the central part of the visual analyzer. The aim of the study was to identify the characteristics of the ultrastructure of human retinal photoreceptor cells in glaucoma. The study was carried out using transmission electron microscopy and morphometry. The volume densities (VV) of mitochondria and autophagosomes containing mitochondria were determined. Disorders of orientation and swelling of the membrane discs of rod neurons in the outer segments were revealed. It is shown that sticks are more prone to destructive changes than cones.

Systems Biology and Biomedicine symposiumWhy we need more complex gene diagnostic: the case study of exome from patient with congenital glaucoma

Why we need more complex gene diagnostic: the case study of exome from patient with congenital glaucoma

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Video (download)

Dinara Ivanoshchuk1, Mikhail Voevoda2, Natalia Konovalova3, Konstantin Gunbin4
1ICG SB RAS, Novosibirsk, Russia, dinara@bionet.nsc.ru
2ICG SB RAS, Novosibirsk, Russia, voevoda@bionet.nsc.ru
3TSMA, Tumen, Russia, doctork@bk.ru
4ICG SB RAS, Novosibirsk, Russia, genkvg@bionet.nsc.ru

Usually, a detailed analysis of well-known diseases-related genes for the presence of pathogenic variants does not give any meaningful result, despite the good agreement between the patient’s diagnosis and the available data on the mutations manifestation in these genes. This study, we try to disentangle such a cases using gene network aware exome analysis and variants prioritization.