NT5E mutations and arterial calcifications.

ABSTRACT:

Background

Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear.

Methods

We performed clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications. Single-nucleotide-polymorphism analysis, targeted gene sequencing, quantitative polymerase-chain-reaction assays, Western blotting, enzyme measurements, transduction rescue experiments, and in vitro calcification assays were performed.

Results

We identified nine persons with calcifications of the lower-extremity arteries and hand and foot joint capsules: all five siblings in one family, three siblings in another, and one patient in a third family. Serum calcium, phosphate, and vitamin D levels were normal. A

SUBMITTER: St Hilaire C 

PROVIDER: S-EPMC3049958 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature