title: Genetics in arterial calcification: lessons learned from rare diseases.
abstract: Arterial calcification significantly contributes to morbidity and mortality. Insight into the pathophysiological mechanisms contributing to arterial calcification has come from genetic studies on four rare monogenic disorders. The disease-causing molecular defects in generalized arterial calcification of infancy (GACI), pseudoxanthoma elasticum (PXE), calcification of joints and arteries (CALJA), and familial idiopathic basal ganglia calcification (IBGC) have been identified within recent years. Based on the similarities of GACI, PXE, CALJA, and IBGC, it can be speculated that the underlying disease genes-ENPP1, ABCC6, NT5E, and SLC20A2, respectively-drive a cohesive molecular pathophysiology system modulated by ATP metabolism, inorganic pyrophosphate, adenosine, and inorganic phosphate generation and functional activities.
authors.affiliation: Department of General Pediatrics, Münster University Children's Hospital, D-48149 Münster, Germany.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Nitschke
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
mesh_terms: D015720:5'-Nucleotidase / Q000235:genetics*; D050197:Atherosclerosis / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000235:genetics; D002114:Calcinosis / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics; D005838:Genotype; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011561:Pseudoxanthoma Elasticum / Q000235:genetics; D011755:Pyrophosphatases / Q000235:genetics*; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*; D061205:Vascular Calcification / Q000235:genetics* / Q000503:physiopathology
chemical_list: D015720:5'-Nucleotidase; D058851:GPI-Linked Proteins; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D010727:Phosphoric Diester Hydrolases; D011755:Pyrophosphatases; D050611:Sodium-Phosphate Cotransporter Proteins, Type III; C102029:ABCC6 protein, human; C493589:SLC20A2 protein, human; C548241:NT5E protein, human; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1