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Published on: October 17, 2025
746
Tuberous sclerosis complex: Recent advances in manifestations and therapy
Mari Wataya-Kaneda1, Motohide Uemura2, Kazutoshi Fujita2
1Department of Dermatology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.
Summary
Tuberous sclerosis complex (TSC) is a genetic disorder. Recent advances include gene discovery (TSC1/TSC2), understanding the mTOR pathway, and new diagnostic/treatment strategies like genetic testing and mTOR inhibitors.
Area of Science:
- Genetics and Molecular Biology
- Oncology
- Neurology
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant disorder affecting multiple organs.
- Genetic mutations in TSC1 and TSC2 genes disrupt the hamartin-tuberin complex.
- This disruption leads to constitutive activation of the mTORC1 pathway, driving disease manifestations.
Purpose of the Study:
- To review recent advancements in understanding TSC.
- To summarize key manifestations and therapeutic strategies for TSC.
- To highlight evolving diagnostic criteria and treatment approaches.
Main Methods:
- Review of recent scientific literature on Tuberous Sclerosis Complex.
- Analysis of genetic discoveries and their functional implications.
- Examination of current diagnostic and therapeutic modalities.
Main Results:
- Discovery of TSC1 and TSC2 genes and elucidation of their role in the mTOR pathway.
- Development of genetic testing for TSC diagnosis.
- Emergence of mTORC1 inhibitors as a treatment option.
- Increased recognition of non-neurological manifestations like renal and pulmonary issues.
Conclusions:
- Significant progress has been made in TSC research, diagnostics, and therapeutics.
- A multidisciplinary "cross-sectional medical examination system" is crucial for TSC management.
- Ongoing research continues to refine our understanding of TSC manifestations and treatments.
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