ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

Abstract

Arterial disease: promising protein replacement therapy in inherited disorder A protein replacement therapy may prove useful in tackling calcification and narrowing of the arteries in babies with a severe genetic disorder. Generalized Arterial Calcification of Infancy (GACI) is a rare condition in which infants’ arteries become calcified and their blood vessels internally scarred. It often leads to congestive heart failure. The ENPP1 gene encodes a protein that is crucial to preventing excess calcium build-up in the body. Mutations in the ENPP1 gene lead to GACI, but no therapies for the condition exist. Now, Frank Rutsch at Muenster University Children’s Hospital in Germany and co-workers have shown that administering a protein replacement can inhibit blood vessel scarring and arterial clogging in GACI mice models and in human stem cell cultures. The protein replacement boosts production of a key metabolic molecule called adenosine monophosphate.