Mutation in Adenosine-Controlling Gene Associated with Early Stroke, Inflammation — Physician’s First Watch
Mutation in Adenosine-Controlling Gene Associated with Early Stroke, Inflammation
By Joe Elia
A mutation in CECR1, which normally encodes an enzyme involved in regulating inflammation, has been associated with polyarteritis nodosa, stroke, and other vascular diseases. The findings appear in two studies in the New England Journal of Medicine.
Zhou and colleagues report that CECR1 mutations were associated with marked reductions in adenosine deaminase 2 activity. Five of their nine patients suffered strokes before age 5, and all had recurrent fevers.
In zebrafish experiments, loss of a similar gene caused intracranial bleeding, and brain biopsies from patients showed endothelial damage.
Navon Elkan and colleagues, some of whose patients overlap with Zhou's, describe similar findings in a larger group, including cases of familial pediatric polyarteritis nodosa. They speculate that elevated adenosine levels "may promote tissue injury and fibrosis by prolonging inflammation."