Trends in Cardiovascular Medicine 2012-08-01

Genetics in arterial calcification: lessons learned from rare diseases.

Yvonne Nitschke, Frank Rutsch

Index: Trends Cardiovasc. Med. 22(6) , 145-9, (2012)

Full Text: HTML

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.Copyright © 2012 Elsevier Inc. All rights reserved.

Related Compounds

  • Phosphodiesterase

Related Articles:

Effects of pH on the production of phosphate and pyrophosphate by matrix vesicles' biomimetics.

2013-09-01

[Calcif. Tissue Int. 93(3) , 222-32, (2013)]

Contribution of adenosine-producing ectoenzymes to the mechanisms underlying the mitigation of maternal-fetal conflicts.

2013-01-01

[J. Biol. Regul. Homeost. Agents 27(2) , 519-29, (2013)]

Inflammatory cytokines induce a unique mineralizing phenotype in mesenchymal stem cells derived from human bone marrow.

2013-10-11

[J. Biol. Chem. 288(41) , 29494-505, (2013)]

Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle.

2016-01-01

[Skelet. Muscle 6 , 10, (2016)]

Binding and biomimetic cleavage of the RNA poly(U) by synthetic polyimidazoles.

2012-08-07

[Proc. Natl. Acad. Sci. U. S. A. 109(32) , 12884-7, (2012)]

More Articles...