Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

Area of Science:

• Genetics and Molecular Biology
• Oncology
• Neurology

Background:

• Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder.
• Mutations in TSC1/TSC2 genes disrupt the mammalian target of rapamycin (mTOR) pathway, affecting cellular growth.
• TSC causes benign tumors (hamartomas) in multiple organs, leading to clinical variability and reduced quality of life.

Purpose of the Study:

• To review recent advances in understanding TSC pathogenesis and clinical variability.
• To evaluate therapeutic breakthroughs, focusing on targeted treatments for TSC.

Main Methods:

• A narrative review was conducted utilizing multiple databases.
• Study quality was assessed using impact factors and citation counts.

Main Results:

• Targeted therapies, specifically mTOR inhibitors (mTORis), effectively reduce hamartoma size.
• mTORis demonstrate efficacy in improving neuropsychiatric symptoms and overall patient outcomes.
• Disease expression variability presents diagnostic and management challenges.

Conclusions:

• Early diagnosis and optimized long-term management remain critical for TSC patients.
• Future research should focus on precision medicine and patient-centered care models.
• Centers of expertise are crucial for enhancing treatment efficacy and quality of life in TSC.