Scientists at VIB and KU Leuven have discovered why alterations in a single gene, ASPM, can disrupt the development of our brains. Their findings, published in Developmental Cell, explain the vulnerability of human brains to genetic disorders and how mutations in this gene can lead to microcephaly, a condition often associated with intellectual disability.
Microcephaly affects approximately 2 in 10,000 births when genetic causes are included. The consequences for affected children can range from intellectual disabilities to issues with motor or language development. The research highlights the critical role of the ASPM gene in ensuring proper cell division during brain development.
The ASPM gene is vital for guiding the cell division of young neural stem cells. Changes in this gene can cause crucial cells to reach their final destination prematurely, hindering the expansion of the brain during development. Researchers utilized brain organoids, three-dimensional models of human brains, to study this process.
Professor Pierre Vanderhaeghen of VIB-KU Leuven suggests that the difference in impact between humans and other mammals may be linked to the evolution of the human brain. The process involving the ASPM gene became more significant as the human brain grew larger and more complex. This research enhances our understanding of microcephaly and the vulnerabilities inherent in the unique development of the human brain.
The research team plans to further investigate which brain cells are most affected and how their interconnections change. The study received support from, among others, VIB, KU Leuven, the Queen Elisabeth Medical Foundation, the European Research Council (ERC), and the Research Foundation – Flanders (FWO).
