• PMID: 27483469
• Gene Name: CFTR
• Condition: Spermatogenesis defects, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenesis defects, Male infertility

CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis

Yan C, Lang Q, Huijuan L, Jiang X, Ming Y, Huaqin S, Wenming X.

Cystic fibrosis is the most common genetic disease among Caucasians and affects tissues including lung, pancreas and reproductive tracts. It has been shown that Endoplasmic Reticulum (ER) stress and heat shock response are two major deregulated functional modules related to CFTR dysfunction. To identify the impact of CFTR deletion during spermatogenesis, we examined the expression of spermiogenesis-related genes in the testis of CFTR mutant mice (CF mice). We confirmed expression changes of MSY2, a germ cell specific RNA binding protein, resulting from deletion of CFTR in testis. Furthermore, real time PCR and Western blot results showed that an inflammatory response was activated in CF mice testis, as reflected by the altered expression of cytokines. We demonstrate for the first time that expression of MSY2 is decreased in CF mice. Our results suggest that CFTR deletion in testis influences inflammatory responses and these features are likely to be due to the unique environment of the seminiferous tubule during the spermatogenesis process. The current study also suggests avenues to understand the pathophysiology of CFTR during spermatogenesis and provides targets for the possible treatment of CFTR-related infertility. FAU - Yan, Chen AU - Yan C AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - Key Laboratory of Birth Defects and Related disease of Women and Children, Ministry of Education (Sichuan University), West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - SCU-CUHK Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. FAU - Lang, Qin AU - Lang Q AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. FAU - Huijuan, Liao AU - Huijuan L AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - Key Laboratory of Birth Defects and Related disease of Women and Children, Ministry of Education (Sichuan University), West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - SCU-CUHK Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. FAU - Jiang, Xie AU - Jiang X AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - Third People's Hospital of Chengdu, the Second Affiliated Hospital of Chengdu, Chongqing Medical University, Chengdu 610031, Sichuan, China. FAU - Ming, Yang AU - Ming Y AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - Key Laboratory of Birth Defects and Related disease of Women and Children, Ministry of Education (Sichuan University), West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - SCU-CUHK Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. FAU - Huaqin, Sun AU - Huaqin S AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - Key Laboratory of Birth Defects and Related disease of Women and Children, Ministry of Education (Sichuan University), West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China. AD - SCU-CUHK Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, China.