Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Autor: Peter Nürnberg, Galen Schauer, Wendy E. Smith, Alan R. Sinaiko, Merry Ferre, Tony Roscioli, Nico Ruf, Robert Terkeltaub, Andrea Superti-Furga, Frank Rutsch, Sucheta M. Vaingankar, James McGill, Mohammad R. Toliat, Anita Suk, Jörg T. Epplen, Bernd Hinrichs, Hillary Vallance, Marco Filippone, Wolfgang Höhne, Dirk Schnabel, Mandy Lehmann, A. S. Knisely
Rok vydání: 2003
Předmět:
Zdroj: Nature Genetics. 34:379-381
ISSN: 1546-1718
1061-4036
DOI: 10.1038/ng1221
Popis: Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Databáze: OpenAIRE