Discovery of new genetic causes of male infertility


Infertility — the failure to conceive after a year of unprotected intercourse — affects one in every six couples worldwide, and the man is implicated in about half of these cases. Despite the known importance of genetic factors in the event of the man producing no sperm, only about 25% of these cases can be explained currently. A study to be presented at the annual conference of the European Society of Human Genetics today (Saturday) has uncovered new potential genetic causes, and this discovery will help to develop better diagnostic tests for male infertility. Manon Oud, from the Radboud University Medical Centre, Nijmegen, The Netherlands, will describe to the conference how she and her team carried out the first exome sequencing study to investigate the role of de novo mutations (genetic changes that are not present in the DNA of the parents of an individual) in male infertility. The exome is the DNA sequence of genes that are translated into protein, where most of the currently-known disease-causing mutations are situated. These de novo mutations are found in every individual and are part of the normal evolution of the genome, Oud explains. Mostly they do not affect our health. But in some cases they have a strong effect on gene function and can lead to disease. Until now, their role in male infertility had not been studied. The researchers studied DNA from 108 infertile men, and also from their parents. Comparison of the parental DNA with that of the offspring enabled the identification of the de novo mutations. We found 22 in genes involved in spermatogenesis, says Oud, none of them previously known to cause infertility in human. — VoM

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