Why humans are more sensitive than other species to a brain developmental disease
Researchers at VIB and KU Leuven have uncovered how mutations in the ASPM gene disrupt the development of neural stem cells that help the human brain grow. This disruption explains how these mutations cause microcephaly, a condition characterized by an abnormally small brain and head, often accompanied by intellectual disability. The discovery, published in Developmental Cell, also sheds light on…
Researchers at VIB and KU Leuven have discovered how mutations in the ASPM gene disrupt the development of neural stem cells, leading to microcephaly in humans. Microcephaly is characterized by an abnormally small brain and head, often accompanied by intellectual disability. This discovery explains why humans are more sensitive to genetic conditions affecting brain development than other mammals.
The ASPM gene is crucial for the proper organization and division of neural cells during brain growth, and mutations in this gene lead to premature displacement and impaired specification of specific neural progenitor cells. These cells are expanded in the human fetal brain and play a key role in brain expansion. Using human cortical organoids, researchers found that ASPM mutations disrupt the development of these cells, causing microcephaly.
This sensitivity to ASPM mutations in humans is not due to a new function of the gene, but rather the critical role the ASPM gene plays during human brain development. Future research will focus on understanding the consequences of these developmental defects on the fully grown brain, including which neurons are most affected and how they connect.
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