The role and mechanism of TSC in kidney diseases: a literature review
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by multisystem involvement, primarily caused by loss-of-function mutations in the TSC1 or TSC2 genes. TSC is a key integrator of metabolic signaling and cellular stress and has become an impo...
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| Format: | Article |
| Language: | English |
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BMC
2025-07-01
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| Series: | BMC Nephrology |
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| Online Access: | https://doi.org/10.1186/s12882-025-04260-7 |
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| author | Qiulin Luo Xinguo Zheng Ye Xu Yuxi Fan Hedong Zhang Tengfang Li Xiangqi Zhang Longkai Peng Xin Jiang Helong Dai |
| author_facet | Qiulin Luo Xinguo Zheng Ye Xu Yuxi Fan Hedong Zhang Tengfang Li Xiangqi Zhang Longkai Peng Xin Jiang Helong Dai |
| author_sort | Qiulin Luo |
| collection | DOAJ |
| description | Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by multisystem involvement, primarily caused by loss-of-function mutations in the TSC1 or TSC2 genes. TSC is a key integrator of metabolic signaling and cellular stress and has become an important regulator in several kidney diseases. Summary TSC1 and TSC2 can be used not only as genetic markers for disease diagnosis, but also as potential immunotherapeutic targets for kidney disease. Recent studies on the pathogenesis of TSC may provide guidance for developing new treatment strategies for kidney diseases. Key messages Therefore, we systematically reviewed the molecular biology of TSC and their signaling pathway, regulation of cell metabolism, and immune response in acute renal injury, chronic kidney disease, diabetic kidney disease, renal cysts, benign and malignant intrarenal tumors, and renal angiomyolipomas. We also summarize the efficacy and adverse effects of mTOR inhibitors in the treatment of TSC-related kidney diseases. |
| format | Article |
| id | doaj-art-dbce6afb246246fba92a0d54ae50e253 |
| institution | DOAJ |
| issn | 1471-2369 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj-art-dbce6afb246246fba92a0d54ae50e2532025-08-20T03:03:29ZengBMCBMC Nephrology1471-23692025-07-0126111910.1186/s12882-025-04260-7The role and mechanism of TSC in kidney diseases: a literature reviewQiulin Luo0Xinguo Zheng1Ye Xu2Yuxi Fan3Hedong Zhang4Tengfang Li5Xiangqi Zhang6Longkai Peng7Xin Jiang8Helong Dai9Department of Immunology, School of Basic Medical Science, Central South UniversityDepartment of Immunology, School of Basic Medical Science, Central South UniversityMedical College of Guangxi UniversityDepartment of Immunology, School of Basic Medical Science, Central South UniversityDepartment of Kidney Transplantation, Center of Organ Transplantation, The Second Xiangya Hospital of Central South UniversityDepartment of Kidney Transplantation, Center of Organ Transplantation, The Second Xiangya Hospital of Central South UniversityDepartment of Immunology, School of Basic Medical Science, Central South UniversityDepartment of Kidney Transplantation, Center of Organ Transplantation, The Second Xiangya Hospital of Central South UniversityDepartment of Organ Transplantation, The Fifth Clinical Medical College of Henan, University of Chinese Medicine (Zhengzhou People’s Hospital)Department of Kidney Transplantation, Center of Organ Transplantation, The Second Xiangya Hospital of Central South UniversityAbstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by multisystem involvement, primarily caused by loss-of-function mutations in the TSC1 or TSC2 genes. TSC is a key integrator of metabolic signaling and cellular stress and has become an important regulator in several kidney diseases. Summary TSC1 and TSC2 can be used not only as genetic markers for disease diagnosis, but also as potential immunotherapeutic targets for kidney disease. Recent studies on the pathogenesis of TSC may provide guidance for developing new treatment strategies for kidney diseases. Key messages Therefore, we systematically reviewed the molecular biology of TSC and their signaling pathway, regulation of cell metabolism, and immune response in acute renal injury, chronic kidney disease, diabetic kidney disease, renal cysts, benign and malignant intrarenal tumors, and renal angiomyolipomas. We also summarize the efficacy and adverse effects of mTOR inhibitors in the treatment of TSC-related kidney diseases.https://doi.org/10.1186/s12882-025-04260-7Tuberous sclerosis complexKidney diseasesmTOR inhibitorsImmunotherapeutic |
| spellingShingle | Qiulin Luo Xinguo Zheng Ye Xu Yuxi Fan Hedong Zhang Tengfang Li Xiangqi Zhang Longkai Peng Xin Jiang Helong Dai The role and mechanism of TSC in kidney diseases: a literature review BMC Nephrology Tuberous sclerosis complex Kidney diseases mTOR inhibitors Immunotherapeutic |
| title | The role and mechanism of TSC in kidney diseases: a literature review |
| title_full | The role and mechanism of TSC in kidney diseases: a literature review |
| title_fullStr | The role and mechanism of TSC in kidney diseases: a literature review |
| title_full_unstemmed | The role and mechanism of TSC in kidney diseases: a literature review |
| title_short | The role and mechanism of TSC in kidney diseases: a literature review |
| title_sort | role and mechanism of tsc in kidney diseases a literature review |
| topic | Tuberous sclerosis complex Kidney diseases mTOR inhibitors Immunotherapeutic |
| url | https://doi.org/10.1186/s12882-025-04260-7 |
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