Apolipoprotein E (apo E) is protein constituent of several plasma lipoproteins including chylomicron remnants, very low density lipoproteins and intermediate density lipoproteins. It is involved in the catabolism of triglyceride-rich lipoproteins, in the regulation of plasma lipoprotein concentrations. Polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP) is a rapid and efficient method for the detection of mutations and polymorphisms. In this study, we screened for the apo E mutant in patients with hypertriglyceridemia (> 200 mg/dl) by PCR-SSCP. A new apo E variant, apoE3-Nanakuma (Ala214→Val), was identified in 81-year-old female with moderate hypercholesterolemia. The variant was due to a point mutation (GCG→GTG) at the second nucleotide position of the codon encoding amino acid residue 214 of the mature apo E. There was no charge difference on isoelectric focusing gel electrophoresis compared with normal apo E3. Examination of the proband's kindred revealed another heterozygous mutation carrier. The presence of the apoE3 Nanakuma form was associated with lipid abnormalities, but not associated with cardiovascular disease in this family disease in this family.