APOLIPOPROTEIN CII-PADOVA (TYR(37)-]STOP) AS A CAUSE OF CHYLOMICRONEMIA IN AN ITALIAN KINDRED FROM SICULIANA

In this paper we report on the molecular defect underlying apolipoprot ein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as co factor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chyl omicrons and very low density lipoproteins. Homozygous apoCII deficien cy manifests with type I hyperlipoproteinaemia and is a rare disorder of lipoprotein metabolism. Until now, only 10 kindreds with apoCII def iciency have been published and all underlying mutations were unique. The proband was the offspring of a consanguineous mating. Sequencing o f cloned DNA from the proband presented in this report showed homozygo sity for a C->A substitution at position 3002 in the apoCII gene, resu lting in the introduction of a premature stop codon at residue 37 of t he mature apoCII protein. Therefore, a truncated apoCII is synthesised , lacking the part of the apolipoprotein that activates LPL. This muta tion has previously been described in another Italian family and is kn own as apoCII(Padova). We propose that apoCII(Padova) is a frequent ca use of apoCII deficiency in persons of Italian descent.