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...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.展开更多
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)+1 种基金Non-profit Central Research Institute Fund of National Research Institute For Family Planing(2022GJM02)Start-up Fund(Q410800320)from Soochow University.
文摘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.
