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Insights into Tuberous Sclerosis Complex : From Genes to Clinics
Soo Yeon Kim1,2
1Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Abstract:
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role. Long-term disease monitoring and appropriate interventions by multidisciplinary experts, including the use of mTOR inhibitors and promising therapeutic agents based on disease pathomechanisms, are essential for effective TSC management and improved clinical outcomes.
Insights
Tuberous sclerosis complex (TSC) is a genetic disorder caused by TSC1/TSC2 gene variants, affecting the mTOR pathway. Early diagnosis and multidisciplinary management, including mTOR inhibitors, improve patient outcomes.
Area of Science:
- Genetics
- Neurology
- Oncology
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
- It stems from pathogenic variants in TSC1 or TSC2 genes.
- This leads to mammalian target of rapamycin (mTOR) pathway dysregulation.
Purpose of the Study:
- To highlight the diagnostic significance of clinical features in TSC.
- To emphasize the growing role of genetic testing in TSC diagnosis.
- To underscore the importance of long-term monitoring and multidisciplinary management for TSC.
Main Methods:
- Clinical feature analysis for diagnosis.
- Genetic testing for TSC1/TSC2 variants.
- Review of current and emerging therapeutic strategies.
Main Results:
- TSC is characterized by organ-specific tumors and neurological issues like seizures and developmental delays.
- Genetic testing is increasingly vital for accurate TSC diagnosis.
- mTOR pathway dysregulation is central to TSC pathogenesis.
Conclusions:
- Effective TSC management relies on early diagnosis through clinical and genetic evaluation.
- Multidisciplinary expert care is essential.
- Targeted therapies, including mTOR inhibitors, are key to improving clinical outcomes in TSC patients.
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