# New insights into tuberous sclerosis complex: from structure to pathogenesis

## TL;DR

This review discusses recent findings on the molecular structure and function of the TSC1/TSC2 complex and its role in tuberous sclerosis, a genetic disorder causing benign tumors.

## Contribution

The paper highlights new insights into the molecular mechanisms and therapeutic strategies for tuberous sclerosis complex.

## Key findings

- TSC1 and TSC2 form a protein complex that regulates cell growth via mTOR signaling.
- Pathogenic variants in TSC1 and TSC2 lead to the formation of benign tumors in multiple organs.
- Recent progress has improved understanding of the complex's role in cellular processes and disease progression.

## Abstract

Tuberous sclerosis complex is a genetic disorder characterised by the formation of benign tumours in multiple organs, primarily due to pathogenic variants in the TSC1 and TSC2 tumour suppressor genes. These genes encode hamartin and tuberin, respectively, which together with TBC1D7 form a crucial protein complex regulating cell growth and proliferation through mTOR signalling and other pathways. This review provides an overview of recent progress in understanding the molecular structure and function of this key protein complex, its role in cellular processes, pathogenesis, and current and future therapeutic strategies.