Paraoxonase-1 (Q192R) Mutation
Paraoxonase-1 is an HDL-bound ester hydrolase that catalyses the
hydrolysis of a number of organic esters and protects LDL from
oxidation. Plasma paraoxonase-1 activity is considerably lower in
patients with myocardial infarction, hypercholesterolemia and diabetes.
Individuals with Q192R mutation demonstrate changes in paraoxonase-1
activity with QQ individuals with only 59% of the normal activity. The
distribution of various genotypes are: 49% QQ, 42% QR and 10% RR.
There is increased interest in the significance of this mutation in
determining risk for coronary artery disease due to its association with
LDL oxidation and oxidative stress. More aggressive management of
HDL-deficiency may reduce the risk of myocardial infarction in subjects
carrying the QQ genotype.
References:
Turban S, Fuentes F, Ferlic L, Brugada R, Gotto AM, Ballantyne CM,
Marian AJ. A prospective study of paraoxonase gene Q/R192
polymorphism and severity, progression and regression of coronary
atherosclerosis, plasma lipid levels, clinical events and response to
fluvastatin. Atherosclerosis. 2001 Feb 15;154(3):633-40.
James RW, Deakin SP. The importance of high-density lipoproteins for
paraoxonase-1 secretion, stability, and activity. Free Radic Biol Med.
2004 Dec 15;37(12):1986-94.
Mackness M, Mackness B. Paraoxonase 1 and atherosclerosis: is the
gene or the protein more important? Free Radic Biol Med. 2004 Nov
1;37(9):1317-23.
Zintzaras E, Hadjigeorgiou GM. Association of paraoxonase 1 gene
polymorphisms with risk of Parkinson's disease: a meta-analysis. J Hum
Genet. 2004;49(9):474-81. Epub 2004 Aug 04.
Clarimon J, Eerola J, Hellstrom O, Tienari PJ, Singleton A. Paraoxonase
1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish
population. Neurosci Lett. 2004 Sep 2;367(2):168-70.
For more information go to National Center for Biotechnology Information
(NCBI).
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