Amplification of human interneuron progenitors promotes brain tumors and neurological defects
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Abstract
Evolutionary development of the human brain is characterized by the expansion of various brain regions. Here, we show that developmental processes specific to humans are responsible for malformations of cortical development (MCDs), which result in developmental delay and epilepsy in children. We generated a human cerebral organoid model for tuberous sclerosis complex (TSC) and identified a specific neural stem cell type, caudal late interneuron progenitor (CLIP) cells. In TSC, CLIP cells over-proliferate, generating excessive interneurons, brain tumors, and cortical malformations. Epidermal growth factor receptor inhibition reduces tumor burden, identifying potential treatment options for TSC and related disorders. The identification of CLIP cells reveals the extended interneuron generation in the human brain as a vulnerability for disease. In addition, this work demonstrates that analyzing MCDs can reveal fundamental insights into human-specific aspects of brain development.
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Previously established protocols reproducibly generate human telencephalon organoids.
“We used previously established protocols that reproducibly generate human telencephalon organoids23,24 (Extended Data Fig. 5a–c).”
From Single-cell brain organoid screening identifies developmental defects in autism (2023) · cites this paper as [24]
The Organoid generation section describes generating human organoids and patterning them toward dorsal or ventral brain regions using previously described methods. The CLIP cells section also reports using patterning protocols to generate dorsal and ventral forebrain organoids. Our copy does not establish that those protocols reproducibly generate organoids, so that part of the claim remains unsupported. (LLM, conf=0.82)
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- Authors
- Eichmüller, O. L., Corsini, N. S., Vértesy, Á., Morassut, I., Scholl, T., Gruber, V.-E., Peer, A. M., Chu, J., Novatchkova, M., Hainfellner, J. A., Paredes, M. F., Feucht, M., & Knoblich, J. A.
- Affiliations
- Institute of Molecular Biotechnology (AT)
- Medical University of Vienna (AT)
- University of California, San Francisco (US)
- Institute of Molecular Biotechnology (IMBA), Austrian Academy of Sciences, Vienna Biocenter (VBC), Vienna, Austria.
- Corresponding author
- Corsini, Nina S.
- ORCID
- Venue
- Science
- Published
- 2022-01-28
- Volume
- 375
- Issue
- 6579
- Pages
- eabf5546-eabf5546
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC7613689
- OpenAlex
- W4210452888
- Cited by
- 163
- References
- 79
- Citations by year
- 2026: 19 · 2025: 38 · 2024: 35 · 2023: 38 · 2022: 25 · 2021: 5 · 2020: 3
- FWCI
- 12.57
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Science (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- European Commission (695642)
- Österreichischen Akademie der Wissenschaften (SFB F78)
- Bundesministerium für Bildung, Wissenschaft und Forschung
- National Institutes of Health
- University of California, San Francisco
- National Cancer Institute (P50CA097257)
- National Institute of Neurological Disorders and Stroke (P01NS083513, DP2NS122550)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- tuberous sclerosis complex, malformations of cortical development, brain organoids, neural stem cells, brain tumors, epilepsy, developmental delay, epidermal growth factor receptor inhibition, human brain evolution
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, RNA-Seq, Brain, Brain Neoplasms, Humans, Interneurons, Organoids, Tuberous Sclerosis, Disease Progression, Cell Lineage, Loss of Heterozygosity, Gene Expression Profiling, Cell Proliferation, Induced Pluripotent Stem Cells, TOR Serine-Threonine Kinases, Neural Stem Cells, Carcinogenesis, ErbB Receptors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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