In the study jointly conducted by Near East University Faculty of Medicine Department of Medical Biology, Near East University DESAM Institute Rare Diseases Research Group, Bursa Uludağ University Faculty of Medicine Department of Medical Genetics, Memorial Hospital IVF and Reproductive Health Center, Acıbadem University Genetic Diagnosis Center, German Reproductive Genetics (AG Reproduktionsgenetik) research group and Münster University Institute of Human Genetics, the researchers carried out all exome analyzes made through new generation sequencing of patient groups including five members of a Turkish family with infertility history, four patients from Münster, two cases from Portugal, and three other patient groups from Gieben, Nijmegen, and Newcastle.
As a result of the new generation sequencing, homozygous disease-causing pathogenic variations in the M1AP (Meiotic 1 arrest protein) gene were found in these individuals. As a result of M1AP immunostaining on the testes of some individuals, it was found out that M1AP gene expression was lost. The researchers demonstrated that the M1AP gene mutations detected in these individuals represent a relatively common cause of both sporadic and familial male infertility, with strong clinical validity that they cause severe autosomal recessive failure of spermatogenesis. Research results revealed the important role of M1AP, as M1AP was not a gene previously associated with disease in humans.
With this study, it was shown for the first time that homozygous pathogenic mutations in the M1AP gene, which has been associated with human male germ cell development, can cause non-obstructive azoospermia in men.
Published in American Journal of Human Genetics...
The results of the research were published in the American Journal of Human Genetics, which has 9.9 impact factors, one of the most prestigious journals of the genetic community. Online literature access is available at https://www.cell.com/ajhg/fulltext/S0002-9297(20)30198-1
They are studying the relation between infertility and genetic causes...
Near East University Faculty of Medicine, Department of Medical Biology, Faculty Member and DESAM Institute Rare Diseases Research Group Leader Assoc. Prof. Dr. Mahmut Çerkez Ergören said in the information given about the study that in the light of the results they found in their study that the gene analysis of the M1AP gene should be included as part of the routine genetic diagnosis. Assoc. Prof. Dr. Ergören said, “An effective treatment method that increases the chance of having children in patients affected by infertility has not been found yet. In this context, the testicular biopsy and subsequent artificial reproduction in practice did not provide a significant improvement in male fertility due to the low probability of patients carrying sperm or despermatozoa in the testis. Nevertheless, an improved understanding of the genetic causes for infertility in men who often have an alleviated sense of guilt and look favorably on genetic counseling may continue to benefit future treatment. Therefore, it is inevitable that gene analysis of the M1AP gene will be included as part of routine genetic diagnosis in the light of the work we have done and the results we have found."