CFTR gene and the diagnosis of male infertility?

  Infertility (pregnancy) accounts for about 15% of couples of reproductive age, of which male factors account for about 50%, and the etiology of many patients is still unknown, of which, about 30% are caused by genetic factors. Studies have confirmed that mutations in cystic fibrosis transmembrane mediated regulatory genes can lead to cystic fibrosis, vas deferens and obstructive azoospermia, resulting in male infertility.  The CFTR gene, located on human chromosome 7, encodes a membrane protein that is a Cl- ion channel protein and is regulated by AMP. More than 650 mutation loci in CFTR gene have been clearly identified, and its mutation is closely associated with CF (cystic fibrosis) disease, in addition to male reproductive disorders such as congenital bilateralabsence of vas deferens (CBAVD), aberrant spermatozoa, obstructive azoospermia, oligozoospermia, etc. Since CF patients are prone to CBAVD, it has been proposed that C B A V D is an early manifestation of reproductive abnormalities in CF, accounting for 1 to 2% of male infertility.CFTR affects the spermatogenic process mainly through 2 pathways, and how it regulates vas formation is still unclear.Cohen et al. suggested that the CFTR gene Wnt/bcatenin signaling pathway is related, and the Wnt/b catenin signaling pathway was shown to be involved in the development of Wolffian ducts. In CBAVD disease, the CFTR gene may affect vas deferens formation by regulating Wnt/b-catenin.  Further studies on the role and mechanism of CFTR gene, as one of the important regulators of male infertility, will be important in the fields of diagnosis of male infertility, proposing new drug-targeted treatment options and contraception.