Tuberous sclerosis (Bourneville-Pringle syndrome) is of a rare disease. 1 in 6,000 newborns is believed to be affected. According to current medical knowledge, it is a hereditary disease that can cause abnormal growths in the brain, changes in the skin, and sometimes the development of tumors in vital organs.

The disease results from a mutation in one of two genes (TSC1 or TSC2 gene), which can lead to uncontrolled cell growth as well as tumor formation. Its symptoms are varied and may include seizures, intellectual disability, autism, delayed development of motor and language skills, learning disabilities, and behavioral problems, for example. There is no cure; treatment focuses on alleviating symptoms.

The Vienna research team used cerebral organoid models derived from patients' human stem cells to elucidate the rare neurodevelopmental disease. Studies into the cause of TSC led the researchers to a cell type-specific to the human brain. They observed a proliferation of so-called CLIP cells (Caudal Late Interneuron Progenitor cells), which are only found in the developmental phase of humans but are absent in mice, for example. Accordingly, animal models do not contribute significantly to the elucidation of this rare disease.

Original publication:
Eichmüller O.L., Corsini N.S., et al: Amplification of human interneuron progenitors promotes brain tumors and neurological defects, Science, 2022. DOI: https://doi.org/10.1126/science.abf5546

Source:
https://www.oeaw.ac.at/imba-de/ueber-imba/newsroom/news/nicht-alle-gehirne-sind-gleich-warum-das-menschliche-gehirn-anfaelliger-fuer-krankheiten-ist-als-tierhirne
https://www.tsdev.org/
https://www.msdmanuals.com/de-de/heim/gesundheitsprobleme-von-kindern/neurokutane-syndrome-bei-kindern/tuber%C3%B6se-sklerose