Mystery in Miniature

A rare genetic condition, tuberous sclerosis complex (TSC) causes the development of cysts and benign tumours in the kidneys and other organs, with potentially life-threatening consequences. While we know TSC is caused by mutations in the genes TSC1 or TSC2, the actual cellular processes affected have remained something of an enigma. In a recent breakthrough, researchers were able to investigate the effects of mutations in these genes using renal organoids, miniature self-organised clusters of cells that recapitulate the structures and functions of kidneys (pictured, with various kidney structures highlighted in different colours). When tracking the development of organoids made from cells lacking functional TSC1 or TSC2 they found disruptions to the developmental pathways of multiple cell types, contributing to the puzzling diversity of tumours associated with TSC. While there is currently no cure for TSC, these organoids could also prove a useful tool for testing potential drugs in the future.

Written by Emmanuelle Briolat

Emmanuelle Briolat

Writer

A researcher specialising in visual signals in Lepidoptera, camouflage and the effects of light pollution, Emmanuelle’s writing covers a range of topics, from biomedical research to children’s books about moth defences.

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• Image from work by Adam Pietrobon and colleagues
• The Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY-ND-NC 4.0)
• Published in Cell Reports, July 2022