HEREDITARY DEFECT OF APOLIPOPROTEIN-B-100 AS A CAUSE OF HYPERCHOLESTEROLEMIA IN ISCHEMIC-HEART-DISEASE

In order to elucidate whether elevated plasma level of apollpipoprotei n B-100 associated or not with hyperlipidemia is linked to hereditary defect of apolipoprotein (apo) B-100 27 men aged 40-54 years with seru m apo B-100 above 160 mg/dI were studied. All patients were evaluated because of suspected ischemic heart disease. Dot hybridization reveale d among these patients one carrier of hereditary defect of apo B-100. He had a mutation which led to substitution of glutamine for arginine in 3500 aminoacid residue of protein. Proband had high LDL cholesterol and apo-D levels and angiographically proven coronary artery disease. He inherited the mutation from his father who also had ischemic heart disease with moderate hypercholesterolemia. Thus hypercholesterolemia in proband and his father to a great extent was determined by a mutat ion in apo-B-100 gene but effect of other genetic factors could not be excluded.