DNA polymorphism of the lipoprotein lipase gene and of the apolipoproteins AI, CIII, AIV genes cluster in Egyptian cad patients and in healthy control subjects

Coronary artery disease [CAD] is a major cause of mortality in Egypt. CAD is a multifactorial disorder with both environmental and genetic factors involved in its aetiology and pathogenesis. Dyslipidaemias are among the major risk factors for CAD. Lipoprotein lipase [LPL] gene an apolipoprotein AI-CIII-AIV genes cluster are among the main candidate genes involved in lipid metabolism. The aim of the present study is to determine and detect the frequencies of common DNA polymorphisms of LPL gene and apo AI-CIII-AIV gene cluster in Egyptian CAD patients and healthy control subjects. The study sample included 121 Egyptian male CAD patients and 101 male controls. Mutations and polymorphisms that were previously found to be common in European or Asian populations were chosen to be examined in the current study. These included D9N, N291S, S447X, and Hindlll restriction fragment length polymorphism [RFLP] for LPL gene. Those for the apolipoprotein AI-CIII-AIV genes cluster were: Xmnl RFLP, Al promoter 75G>A, Mspl RFLP, and Pstl RFLP for apo al, Sstl RFLP for apo CIII, and T347S For apo AVI. The N291S and the homozygous pattern of the rare allele of S447X reported in other ethnic groups were not detected in the studied groups. The frequencies of other mutations and polymorphism were reported. Some of these frequencies are comparable with other reported frequencies in the literatures of other ethnic groups. However, there were no statistical significant difference between the CAD patients and the normal males. Failure of the present study to detect significant association between the different polymorphic sites and CAD reflects the complexity of the disease where other environmental and genetic factors may be involved

Platelet aggregation and von willebrand factor in children with insulin dependent diabetes mellitus

Microvascular complications of diabetes mellitus represent the most serious complications that burden normal life in insulin dependent diabetic patients. It has been speculated that platelet activation and von Willebrand factor [vWF] activity might contribute to the evolution of microvascular complications in patients with insulin dependent diabetes mellitus [IDDM]. In this study, platelet aggregation [in response to ADP and ristocetin] and vWF activity were measured in 20 children with IDDM who were clinically free from demonstrable microvascular complications, and in 10 normal healthy children of matched age and sex served as control group. The results showed an abnormal platelet behavior in diabetic children that was characterized by irreversible aggregation with low dose of ADP and significant increase in peak wave length of platelet aggregation with both ADP and ristocetin. Also the activity of vWF which is a marker of endothelial cell function was significantly higher in diabetic children compared to control group. The studied parameters, were compared with the state of metabolic control, namely glycemic control by measurement of glycated haemoglobin [Hb A1c] and the lipidemic state assessed by serum total cholesterol levels. Platelet aggregation was positively correlated with the serum cholesterol level while vWF was positively correlated with the level of glycated haemoglobin. Meanwhile vWF activity was positively correlated with platelet aggregation. To conclude; the results of this study suggest that diabetic children who are clinically free from detectable microvascular complications might be at the onset of preclinical microangiopathy manifesting itself by the enhanced platelet aggregation and endothelial cell dysfunction [high vWF activity]. Both the glycemic and lipidemic states seem to affect the enhanced platelet activation and increased vWF