Loss-of-Function Mutation Causes ALS in Mouse Model

Neurological disease researchers working with a mouse model of amyotrophic lateral sclerosis (ALS) have shown that the condition is critically linked to a loss-of-function mutation in the C9ORF72 (chromosome 9 open reading frame 72) gene.

C9ORF72 mutations have been found in a significant fraction of patients suffering from ALS and frontotemporal dementia (FTD), yet the function of the C9ORF72 gene product remains poorly understood.

In a study published in the July 14, 2016, online edition of the journal Science Translational Medicine investigators at Harvard University (Cambridge, MA, USA) and the Massachusetts Institute of Technology (Cambridge, MA, USA) described results of experiments performed with an ALS mouse model.

They reported that mice carrying loss-of-function mutations in C9ORF72 developed splenomegaly, neutrophilia, thrombocytopenia, increased expression of inflammatory cytokines, and severe autoimmunity, ultimately leading to a high mortality rate. More...