BRCA1 Shapes Brains

BRCA1, is a gene most will have heard of in relation to breast and ovarian cancer – BRCA1 mutations are associated with inherited susceptibility to these diseases. However, normal BRCA1 plays an important role in neurodevelopment. Researchers ‘knocked out’ the gene in the mouse central nervous system to find out what its function is there. They noted that among other widespread neural defects in the mutant mice the brain region called the cerebellum (right panel) is at least 50% smaller than that of normal mice (left). And the cells that make up the cerebellum are also very disorganised. Rare cases of similar brain abnormalities have been observed in people with mutated BRCA1. Thus, results generated from such studies of mice are likely to enhance our understanding of human brain development and gene defects associated with neural pathologies.

Written by Rhiannon Grant

Rhiannon Grant

Writer

An Edinburgh-based real life researcher, Rhiannon is most enthusiastic about communicating the joy of science to people who think they hate all science. She currently works as a technician in a neuroscience lab.

• Image by Carlos Perez-Garcia and colleagues
• The Salk Institute for Biological Studies, USA
• Copyright held by original authors
• Research published in PNAS, April 2014