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 |
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Rok vydání: | 2003 |
Předmět: |
Male
medicine.medical_specialty DNA Mutational Analysis Cell Biology medicine.disease_cause Generalized arterial calcification NT5E Internal medicine Genetics medicine Humans Pyrophosphatases Mutation Phosphoric Diester Hydrolases Calcinosis Infant Phosphodiesterase Arteries Internal elastic lamina medicine.disease Idiopathic infantile arterial calcification Phenotype Endocrinology medicine.anatomical_structure Female Calcification |
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 |
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