Fatemeh Shayesteh, Effat Farrokhi, Manochehr Shirani, Mehrdad Modarresi, Farshad Roghani, Morteza Hashemzadeh,
Volume 13, Issue 4 (1-2011)
Abstract
Background: Familial hypercholesterolemia (FH) is a disorder with autosomal dominant pattern caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B-100. The aim of this study was to investigate the frequency and type of LDLR gene mutations in an Iranian population of patients with high blood cholesterol. Materials and Methods: In this descriptive-lab based study, a total of 50 non-related possible FH subjects from Cheharmahal Bakhtiari were studied. All subjects were tested for presence of LDLR gene mutations in 9 exons of the LDLR gene including 2, 4, 6, 7, 8, 9, 10, 12, and 14. The shifted bands were detected on electrophoresis gels and confirmed by subsequent DNA sequencing method. Results: Overall, four different polymorphisms were identified in 18% of the patients. We found 1413G>A, 1725C>T and 1773C>T, 2140+5G>A in 2,23,2 and 2 subjects respectively from which 1413G >A and 1773C>T were detected in both alleles of the gene. Conclusion: The results did not indicate the involvement of LDLR gene mutations of FH in the samples studied.
Keyhan Ghatreh Samani, Effat Farrokhi, Morteza Hashemzadeh, Esfandyar Heidarian,
Volume 16, Issue 5 (8-2013)
Abstract
Background: Paraoxonase1 activity shows decline in patients with coronary artery disease. The C to T change in the -107 position of promoter is the most important genetic determinant of serum levels of paraoxonase 1. Study of this polymorphism and its relationship with the type of fatty acid composition of phospholipids in HDL particles can be found in the common pursuit of better medicines and considered in drug treatment.
Materials and Methods: In this descriptive study 265 Patients were selected and divided in two groups based on LDL level (131 in case and 134 in control). Information of subjects were collected from questionnaire and the results of biochemistry and molecular tests. Fatty acids of HDL phospholipids were measured with Gas chromatography technic .
Results: PON1aryl esterase activity, had no significant changes after treatment with lovastatin but paraoxonase activity had more significant increases in the CC genitype of -C/T107 polymorphism. Percent of oleic acid, linoleic acid and icosapentanioc acid in HDL phospholipids were increased by lovastatin.
Conclusion: Treatment with lovastatin in the CC genotype is probably more protective effect against cardiovascular disease. Following treatment, in patients with higher paraoxanase 1 activity Oleic acid and linoleic acid have also increased in HDL phospholipids.
