Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.
It has recently been suggested that a substitution of glutamine for arginine at residue 3500 of apolipoprotein (apo) B-100 causes familial defective apo B-100 (FDB), an autosomal, dominantly inherited disorder, which leads to increased serum cholesterol levels. From a sample of 243 patients from Munich with type IIa hyperlipoproteinemia (HL), we have identified eight individuals with the apo B-100 arginine(3500)----glutamine mutation. In a group of 57 subjects with defective low density lipoprotein receptor (LDLR), no mutant apo B alleles were detected. The frequency of FDB in patients with type IIa HL was estimated to be 3%. In the kindreds of three of the probands, 10 additional carriers of the apo B mutation were identified. Clinical and biochemical data reveal a striking similarity between patients with FDB and those with a defect in the LDLR gene. Our data support previous findings that FDB is a serious disorder causing premature atherosclerosis.
Schuster
H
H
Medizinische Poliklinik der Universität, München, F.R.G.
Rauh
G
G
Kormann
B
B
Hepp
T
T
Humphries
S
S
Keller
C
C
Wolfram
G
G
Zöllner
N
N
D000328:Adult; D000595:Amino Acid Sequence; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005860:Germany, West / Q000453:epidemiology; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D018110:Receptors, Lipoprotein
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011956:Receptors, Cell Surface; D018110:Receptors, Lipoprotein; D005973:Glutamine; D004247:DNA; D001120:Arginine