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1:33 PM  August 14, 2017

Tomsk scientists work on editing of chromosomal defects

© РИА Томск. Яна КузьминыхTomsk scientists work on editing of chromosomal defects

TOMSK, Aug 14 – RIA Tomsk. Tomsk scientists develop methods of editing of genome thanks to which it will be possible to create technologies of treatment of the patients having a Down syndrome and other hereditary diseases, deputy director on scientific work of Scientific Research Institute of Medical Genetics of the Tomsk National Research Medical Center Igor Lebedev told.

According to him, pairs of chromosomes in humans in the standard form look "linear", but in some cases they can "lose" their endings and become locked in a ring. Hereditary syndromes associated with the appearance of the ring chromosome were well studied. The results of the research can be used to develop a new method for correcting an inherited defect.

"The matter is that ring chromosomes are unstable structures in stem cells and can easily be lost at cellular division therefore the remained normal chromosome can frame the duplicate and by that to restore a normal set of chromosomes", – Lebedev told.

He specified that change of number or structure of chromosomes leads to chromosomal diseases, including mental retardation and Down syndrome, which arises owing to emergence superfluous – the 21st – chromosomes. Scientists of Scientific Research Institute of Medical Genetics with assistance of the Russian Science Foundation make now experiments on creation of the control system for behavior of the ring chromosome.

"We find out whether it is possible to create such system which will purposefully create a ring chromosome from a chromosome with structural or numerical violation, to throw it out from a cell, and to double the remained normal copy. Thus the chromosomal mutation will disappear from a cell", – the interlocutor of the agency told.

He specified that such researches are conducted with use of cultures of stem cells from patients with ring chromosomes so far, but further editing of chromosomes will become possible also at an embryo stage within the procedures of artificial insemination.

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