2015/08/05
BRCA1, a breast cancer predisposition gene, a potential contributor in a human and animal model of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is characterised by selective motoneuron degeneration in the spinal cord, brainstem and motor cortex leading to progressive muscle weakness, atrophy and paralysis. Growing evidence suggest that microglia are implicated in ALS through the release of both neuroprotective and neurotoxic factors. Analysis of the genetic profile of microglia in an animal model of ALS has highlighted the involvement of the tumour suppressor gene breast cancer susceptibility gene 1 (BRCA1). Furthermore, BRCA1 protein was established as a marker of human spinal microglia and was significantly up-regulated in ALS patients. This work identifies BRCA1 as a potential contributor of ALS and a valid therapeutic target. In addition, it suggests the involvement of oncogenic proteins in neurodegenerative diseases.
This work was initiated as a collaboration between the groups of Maria Vivanco and Florence Perrin. Dr Perrin was then working at the Neuroscience Department, University of Basque Country and has since moved her laboratory to the Institute for Neurosciences of Montpellier.
This study has been published in the journal Molecular Neurodegeneration.
