Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model  

作　　者：Ying Liu Long-Long Fu Hui-Zhong Xu Yi-Ming Zheng Wei-Xi Li Guang-Hui Qian Wen-Hong Lu Hai-Tao Lv 

机构地区：[1]Institute of Pediatric Research,Children's Hospital of Soochow University,Suzhou 215025,China [2]National Health Commission Key Laboratory of Male Reproductive Health,National Research Institute for Family Planning,Beijing 100081,China [3]Institute for Advanced Study and School of Physical Science and Technology,Soochow University,Suzhou 215006,China

出　　处：《Asian Journal of Andrology》2023年第5期627-631,共5页亚洲男性学杂志（英文版）

基　　金：supported by grants from the National Natural Science Foundation of China(No.81803116 and No.32001072);Open Project Fund from NHC Key Laboratory of Male Reproductive Health/National Research Institute for Family Planning(2022GJP0102);Non-profit Central Research Institute Fund of National Research Institute For Family Planing(2022GJM02);Start-up Fund(Q410800320)from Soochow University.

摘　　要：Approximately 31%of patients with 22q11.2 deletion syndrome(22q11.2DS)have genitourinary system disorders and 6%of them have undescended testes.Haploinsufficiency of genes on chromosome 22q11.2 might contribute to the risk of 22q11.2DS.In this study,we used mice with single-allele deletion in mitochondrial ribosomal protein L4o(Mrpl40-)as models to investigate the function of Mrpl40 in testes and spermatozoa development.The penetrance of cryptorchidism in Mrpl40+-mice was found to be higher than that in wild-type(WT)counterparts.Although the weight of testes was not significantly different between the WT and Mrpl40+-mice,the structure of seminiferous tubules and mitochondrial morphology was altered in the Mrpl40+-mice.Moreover,the concentration and motility of spermatozoa were significantly decreased in the Mrpl4O+-mice.In addition,data-independent acquisition mass spectrometry indicated that the expression of genes associated with male infertility was altered in Mrpl40+-testes.Our study demonstrated the important role of Mrpl40 in testicular structure and spermatozoa motility and count.These findings suggest that Mrpl4o is potentially a novel therapeutic target for cryptorchidism and decreased motility and count of spermatozoa.

关 键 词：CRYPTORCHIDISM DiGeorge syndrome semen analysis SPERMATOZOA 

分 类 号：R73[医药卫生—肿瘤]