Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018799 (
heart disease
)
34,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The C-terminal region of
EC-SOD
(extracellular superoxide dismutase) mediates the binding to both heparin/heparan sulphate and type I collagen. A mutation (Arg213-->Gly; R213G) within this extracellular matrix-binding region has recently been implicated in the development of
heart disease
. This relatively common mutation affects the heparin affinity, and the concentration of
EC-SOD
in the plasma of R213G homozygous individuals is increased 10- to 30-fold. In the present study we confirm, using R213G
EC-SOD
purified from a homozygous individual, that the heparin affinity is reduced. Significantly, the collagen affinity of the R213G
EC-SOD
variant was similarly affected and both the heparin and collagen affinities were reduced by 12-fold. Structural analysis of synthetic extracellular matrix-binding regions suggests that the mutation alters the secondary structure. We conclude that the increased concentration of
EC-SOD
in the plasma of R213G carriers is caused by a reduction in both heparin and collagen affinities.
...
PMID:The high concentration of Arg213-->Gly extracellular superoxide dismutase (EC-SOD) in plasma is caused by a reduction of both heparin and collagen affinities. 1536 77
