Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs
<b>Background/Objectives</b>: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disorder caused by mutations in the <i>TSC1</i> and <i>TSC2</i> genes, which disrupt the regulation of the mammalian target of rapamycin (mTOR) pathway, a critical...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-02-01
|
| Series: | Life |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-1729/15/3/368 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849341541011685376 |
|---|---|
| author | Aurora Alexandra Jurca Alexandru Daniel Jurca Codruta Diana Petchesi Dan Bembea Claudia Maria Jurca Emilia Severin Sanziana Jurca Cosmin Mihai Vesa |
| author_facet | Aurora Alexandra Jurca Alexandru Daniel Jurca Codruta Diana Petchesi Dan Bembea Claudia Maria Jurca Emilia Severin Sanziana Jurca Cosmin Mihai Vesa |
| author_sort | Aurora Alexandra Jurca |
| collection | DOAJ |
| description | <b>Background/Objectives</b>: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disorder caused by mutations in the <i>TSC1</i> and <i>TSC2</i> genes, which disrupt the regulation of the mammalian target of rapamycin (mTOR) pathway, a critical regulator of cellular growth. The disorder presents as a multisystem condition, with benign tumors (hamartomas) developing in organs such as the brain, skin, heart, kidneys, and lungs, leading to significant clinical variability and impact on quality of life. This review aims to summarize recent advances in the understanding of TSC pathogenesis and clinical variability and evaluate the therapeutic breakthroughs in targeted treatments. <b>Methods</b>: A narrative review was conducted using various available databases. We applied objective evaluation metrics, such as the impact factor of the journals and the citation count, to assess the quality of the studies. <b>Results</b>: Targeted therapies, particularly mTOR inhibitors (mTORis), have shown efficacy in reducing hamartoma size, improving neuropsychiatric symptoms, and enhancing patient outcomes. Despite these advances, variability in disease expression poses challenges in diagnosis and individualized management strategies. <b>Conclusions</b>: Challenges such as early diagnosis, optimizing long-term outcomes, and addressing residual unmet needs remain critical. Future research should prioritize precision medicine approaches and patient-centered care models within centers of expertise to improve treatment efficacy and quality of life for individuals with TSC. |
| format | Article |
| id | doaj-art-cd4f33dbfed94de798ee03f96013e229 |
| institution | Kabale University |
| issn | 2075-1729 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj-art-cd4f33dbfed94de798ee03f96013e2292025-08-20T03:43:36ZengMDPI AGLife2075-17292025-02-0115336810.3390/life15030368Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic BreakthroughsAurora Alexandra Jurca0Alexandru Daniel Jurca1Codruta Diana Petchesi2Dan Bembea3Claudia Maria Jurca4Emilia Severin5Sanziana Jurca6Cosmin Mihai Vesa7Doctoral School of Biological and Biomedical Sciences, University of Oradea, 410087 Oradea, RomaniaDepartment of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 1 December Sq., 410081 Oradea, RomaniaDepartment of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 1 December Sq., 410081 Oradea, RomaniaDepartment of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 1 December Sq., 410081 Oradea, RomaniaDepartment of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 1 December Sq., 410081 Oradea, RomaniaDepartment of Genetics, University of Medicine and Pharmacy “Carol Davila”, Dionisie Lupu Street, Number 37, District 2, 020021 Bucharest, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, December Sq., 410081 Oradea, RomaniaDepartment of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 1 December Sq., 410081 Oradea, Romania<b>Background/Objectives</b>: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disorder caused by mutations in the <i>TSC1</i> and <i>TSC2</i> genes, which disrupt the regulation of the mammalian target of rapamycin (mTOR) pathway, a critical regulator of cellular growth. The disorder presents as a multisystem condition, with benign tumors (hamartomas) developing in organs such as the brain, skin, heart, kidneys, and lungs, leading to significant clinical variability and impact on quality of life. This review aims to summarize recent advances in the understanding of TSC pathogenesis and clinical variability and evaluate the therapeutic breakthroughs in targeted treatments. <b>Methods</b>: A narrative review was conducted using various available databases. We applied objective evaluation metrics, such as the impact factor of the journals and the citation count, to assess the quality of the studies. <b>Results</b>: Targeted therapies, particularly mTOR inhibitors (mTORis), have shown efficacy in reducing hamartoma size, improving neuropsychiatric symptoms, and enhancing patient outcomes. Despite these advances, variability in disease expression poses challenges in diagnosis and individualized management strategies. <b>Conclusions</b>: Challenges such as early diagnosis, optimizing long-term outcomes, and addressing residual unmet needs remain critical. Future research should prioritize precision medicine approaches and patient-centered care models within centers of expertise to improve treatment efficacy and quality of life for individuals with TSC.https://www.mdpi.com/2075-1729/15/3/368TSC1 geneTSC2 genehamartomasmTOR inhibitors |
| spellingShingle | Aurora Alexandra Jurca Alexandru Daniel Jurca Codruta Diana Petchesi Dan Bembea Claudia Maria Jurca Emilia Severin Sanziana Jurca Cosmin Mihai Vesa Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs Life TSC1 gene TSC2 gene hamartomas mTOR inhibitors |
| title | Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs |
| title_full | Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs |
| title_fullStr | Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs |
| title_full_unstemmed | Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs |
| title_short | Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs |
| title_sort | tuberous sclerosis complex new insights into pathogenesis and therapeutic breakthroughs |
| topic | TSC1 gene TSC2 gene hamartomas mTOR inhibitors |
| url | https://www.mdpi.com/2075-1729/15/3/368 |
| work_keys_str_mv | AT auroraalexandrajurca tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT alexandrudanieljurca tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT codrutadianapetchesi tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT danbembea tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT claudiamariajurca tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT emiliaseverin tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT sanzianajurca tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs AT cosminmihaivesa tuberoussclerosiscomplexnewinsightsintopathogenesisandtherapeuticbreakthroughs |