Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Asian Journal of Andrology |
| Subjects: | |
| Online Access: | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=627;epage=631;aulast= |
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| author | Ying Liu Long-Long Fu Hui-Zhong Xu Yi-Ming Zheng Wei-Xi Li Guang-Hui Qian Wen-Hong Lu Hai-Tao Lv |
| author_facet | Ying Liu Long-Long Fu Hui-Zhong Xu Yi-Ming Zheng Wei-Xi Li Guang-Hui Qian Wen-Hong Lu Hai-Tao Lv |
| author_sort | Ying Liu |
| collection | DOAJ |
| description | 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 L40 (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 Mrpl40+/− 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 Mrpl40 is potentially a novel therapeutic target for cryptorchidism and decreased motility and count of spermatozoa. |
| first_indexed | 2024-03-11T15:47:17Z |
| format | Article |
| id | doaj.art-9d3a25b1b1f84b3e950338805ed09de5 |
| institution | Directory Open Access Journal |
| issn | 1008-682X 1745-7262 |
| language | English |
| last_indexed | 2024-03-11T15:47:17Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Andrology |
| spelling | doaj.art-9d3a25b1b1f84b3e950338805ed09de52023-10-26T05:48:56ZengWolters Kluwer Medknow PublicationsAsian Journal of Andrology1008-682X1745-72622023-01-0125562763110.4103/aja2022119Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine modelYing LiuLong-Long FuHui-Zhong XuYi-Ming ZhengWei-Xi LiGuang-Hui QianWen-Hong LuHai-Tao LvApproximately 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 L40 (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 Mrpl40+/− 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 Mrpl40 is potentially a novel therapeutic target for cryptorchidism and decreased motility and count of spermatozoa.http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=627;epage=631;aulast=cryptorchidism; digeorge syndrome; semen analysis; spermatozoa |
| spellingShingle | Ying Liu Long-Long Fu Hui-Zhong Xu Yi-Ming Zheng Wei-Xi Li Guang-Hui Qian Wen-Hong Lu Hai-Tao Lv Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model Asian Journal of Andrology cryptorchidism; digeorge syndrome; semen analysis; spermatozoa |
| title | Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model |
| title_full | Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model |
| title_fullStr | Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model |
| title_full_unstemmed | Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model |
| title_short | Insufficiency of Mrpl40 disrupts testicular structure and semen parameters in a murine model |
| title_sort | insufficiency of mrpl40 disrupts testicular structure and semen parameters in a murine model |
| topic | cryptorchidism; digeorge syndrome; semen analysis; spermatozoa |
| url | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=627;epage=631;aulast= |
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