Phenotypes of Hyperlipoproteinemia in Japan

A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia

Numerous single nucleotide polymorphisms (SNPs) have been found in recent genome wide association studies (GWAS) to be associated with subtle plasma triglyceride (TG) variation in normolipidemic subjects. However, since these GWAS did not specifically evaluate patients with rare disorders of lipoprotein metabolism--'hyperlipoproteinemia' (HLP)--it remains largely unresolved whether any of these...

Pathogenesis of hyperlipoproteinemia.

In the past 25 years, great advances have been made in our understanding of lipoprotein metabolism and of the causation of hyperlipidemia. These advances have been due in part to the study of patients with unusual defects in lipoprotein metabolism. Follow-up investigations into the specific metabolic defects in these patients have revealed qualitative abnormalities in the structure and function...

Diabetes mellitus in familial hyperlipoproteinemia.

The relationship between a certain form of type 2 diabetes mellitus and familial endogenous hyperlipoproteinemia still remains confused. Therefore, we examined glucose tolerance and insulin secretion in 133 members (6-80 years old) of 15 families with a history of endogenous hyperlipoproteinemia. A segregation study was carried out to compare the prevalence of diabetes in hyperlipoproteinemic a...

Erythrocyte Antioxidant Enzymes in Hyperlipoproteinemia

c3 polymorphism in hyperlipoproteinemia (hlp)

c3 typing was performed, by agarose gel electrophorisis, in 147 german patients suffering from hyperlipoproteinemia. the control group consisted of 322 healthy germans. high frequencies of non-typeable sera, varying between 16.66 and 35.71% in different hlp types, found in the present investigation are notable and are a clue for chemical denaturation of c3 protein in hlp patients. statistical a...