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Russian researchers have discovered a set of 135 small variations in the structure of the male genome, the occurrence of which leads to a disruption in the structure of male reproductive cells, and this contributes to the development of infertility, reports the press service of the Sirius University of Science and Technology.
The work lays the groundwork for future research on how specific genetic differences are related to sperm shape and size, and thus—fertility. And this approach gives Russian researchers a tool to develop new approaches to the diagnosis and treatment of male infertility, explained Sirius University junior researcher Semyon Kolmykov.
The researchers made this discovery while analyzing the results of a large-scale study of the Russian Academy of Sciences' Institute of Cytology and Genetics of the Siberian branch in order to evaluate the reproductive health of Russian men—and which involved 2,000 volunteers from five cities: Arkhangelsk, Novosibirsk, Kemerovo, Ulan-Ude, and Yakutsk. As part of this study, researchers analyzed genomic data from samples taken from 367 men of reproductive age.
The researchers decoded the DNA of the cells they collected and compared the small variations in the structure of genes associated with reproductive function to see what proportion of germ cells had irregular shape and structure.
In carrying out this analysis, the researchers were assisted by the international GTRD database, the world's largest repository of results of transcription regulation experiments, in which researchers from Russia participate also.
And thanks to the GTRD data, the researchers were able to identify 135 variants of the genome— different segments of the same section of DNA—one genetic "letter"—a nucleotide—in length. Their emergence in the male genome leads to the development of various disorders of the male reproductive system, which are mainly related to the structure of germ cells.
According to the researchers, the emergence of some of these variants in the male genome causes the number of viable germ cells to decrease to 3 to 4 percent, which is usually an indicator of fertility problems.
Further study of these mutations will help researchers find out exactly what cellular processes they affect, which is necessary for the development of new methods of diagnosis and treatment of infertility.