Research ArticleALS

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

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Science Translational Medicine  13 Jul 2016:
Vol. 8, Issue 347, pp. 347ra93
DOI: 10.1126/scitranslmed.aaf6038

C9orf72, a suppressor of autoimmunity?

Mutations in C9ORF72 are a common contributor to amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of this gene is still poorly defined. In new work, Burberry et al. demonstrate that mutations disrupting the normal function of C9orf72 cause mice to develop features of autoimmunity. They further found that transplantation of normal bone marrow into mutant animals ameliorated this phenotype, whereas transplantation of mutant bone marrow into normal animals was sufficient to cause autoimmunity. The authors conclude that C9orf72 acts through hematopoietic cells to maintain normal immune function and suggest that investigations are warranted into whether disruptions in immunity contribute to disease in patients.

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