It is well known that females with a BRCA1 gene mutation are at a much higher risk of developing breast and ovarian cancers. Now, researchers from the Salk Institute in La Jolla, CA, have discovered what they describe as a “crucial” link between brain development and the BRCA1 gene. The research team, including Inder Verma of the Laboratory of Genetics at Salk, recently published their findings in the journal Proceedings of the National Academy of Sciences. According to the investigators, some women who are genetically susceptible to breast cancer, such as those with BRCA1 mutations, experience brain seizures. In their study, the team found that the BRCA1 gene played an important part in healthy brain development in mice – a finding that may help explain the occurrence of such brain seizures. The investigators say not only could these findings lead to a better understanding of neurological damage in some individuals who are at higher risk of breast cancer, but they could also provide a better understanding of brain evolution.

Elimination of BRCA1 gene led to brain underdevelopment To reach their findings, the research team first deleted the BRCA1 gene in neural stem cells. This led to the underdevelopment of certain brain regions. Share on Pinterest The top row shows normal brain development, while the bottom row shows brain development as a result of BRCA1 gene deletion.

Image credit: Salk Institute for Biological Studies

They found that the cortex of the brain only developed two layers, rather than the usual six layers. The cerebellum of the brain is usually made up of several folds, but in this case, it was almost completely smooth. The brain region that processes odor information – the olfactory bulb – was poorly developed and severely disordered. In addition, the researchers found that neurons died shortly after developing and the ones that did remain were abnormal. When deleting the BRCA1 gene in mouse models, the team found that this abnormal brain development interfered with balance, motor skills and other core functions.