STUDIES ON A KINDRED WITH APOLIPOPROTEIN A-I MüNSTER 4

Abstract

Mutations of serum apolipoproteins may cause genetic dyslipoproteinemia and are used to study structure-function relationships of these proteins.Only recently some rare mutants of ApoA-I, the major apolipoprotein of HDL have been described. In our study 330 unrelated Austrian subjects were screened for genetic variants of ApoA-I by means of an isoelectric focusing method.One proband heterozygous for a mutant ApoA-I was detected HPLC and mass spectrometry of the tryptic peptides of the isolated Apo A-Ivariant revealed Lys atposition 198 instead of usual Glu.So far only one patient with this ApoA-I mutant (ApoA-IMünster4)had been identified, family data had not been reported(1).In the present study 6 blood relatives heterozygous for the mutant (2 children,4 adults) could be detected in 3 generations among 20 family members.The family data are consistent with an autosomal codominant inheritance of the trait.3 of 6 heterozygous subjects and 6 of 14 unaffected family members were hyperlipoproteinemic (4 type IIa,2typeIIb,3typeIV).However,no relationship between the occurence of ApoA-IMünster4 and hyperlipoproteinemia could be shown. Serum levels of cholesterol(C), triglycerides,LDL-C,HDL-C,VLDL-C,ApoA-I,A-IIand B were not significantly different in probands with the mutant fromthose in unaffected family members. In conclusion, ApoA-I Münster4 is inherited in an autosomal codominantway and does not appear to be causally related to dyslipoproteinemia.Nevertheless this ApoA-Imutant may be of interest for studying the interaction of ApoA-I with cell receptors for HDL.

1) Assmann et al.,J Clin Chem Clin Biochem 22:585(1984)

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