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Familial Defective Apolipoprotein B-100

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The text is the summary of recent articles on Familial Defective Apolipoprotein B-100 at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

Another form of Autosomal Dominant hypercholesterolemia, familial defective apolipoprotein B-100, a genocopy of FH caused by defects in the APOB gene that lead to decreased clearance of LDL, is now established as a significant cause of coronary Heart disease [1]. We identified 35 patients with FDB among 362 probands with clinical diagnosis of FH and two cases of FDB in the 40-year-old cohort of 2323 subjects from General Slovak population [2]. Mutations within the LDL receptor and/or apolipoprotein B-100 genes compromising this process may lead to congenital monogenic hypercholesterolaemias known as familial hypercholesterolaemia or familial defective apolipoprotein b-100 [3]. Mutations of the LDL-receptor and apolipoprotein B genes, which affect the binding domains of their protein products, are the causal defects [4]. The measurement of the intima-media thickness (IMT) is an accepted method for the direct evaluation of early atherosclerosis [5].

DNA samples of 98 unrelated Belgian patients with a family history of Autosomal Dominant hypercholesterolaemia were screened for Mutations in the LDLR gene, after exclusion of known Mutations causing familial defective apolipoprotein B-100 (FDB) [6]. familial defective apolipoprotein b-100 is due to mutations around codon 3500 of the apo B gene [7]. In the present study we describe three new Italian cases of familial defective apolipoprotein b-100 (Apo B Arg3500Gln), one from the Liguria region and two from Sicily, and the haplotype of the apo B gene co-segregating with the Mutation [8]. The classification of lipid metabolism disorders was based upon a detailed biochemical analysis of plasma lipids including electrophoresis and assessment of apolipoprotein levels [9]. These methods enable confirmation of familial hypercholesterolaemia, familial defective apolipoprotein B-100 or studying polymorphism of apolipoprotein E [10].

Due to strict indications only patients with severe, refractory hypercholesterolemia are treated with this method [11]. Mutations in the LDL receptor gene are major genetic causes for severe hypercholesterolemia [12]. The familial defective apolipoprotein b-100 (FDB) Mutation was genotyped using established PCR techniques [13]. We have identified 23 heterozygotes and one homozygote for FDB (frequency 1:20) in a group of 510 patients with hypercholesterolemia [14]. A cohort of 236 apparently unrelated patients with clinical features of FH was screened for a common Mutation causing familial defective apolipoprotein B-100 (FDB) and seven low-density lipoprotein receptor (LDLR) gene defects known to be relatively common in South Africans with FH [15].

The metabolic disorder associated with these Mutations has been named familial defective apolipoprotein B-100 (FDB) [16]. The frequency of the heterozygositic forms is 1:700-1:500 in European population [17]. Both forms of hypercholesterolemia causes early onset coronary Heart diseases (CHD) [18]. In contrast, SSCP analysis detected only 7 of the R3500Q and none of the R3531C heterozygotes and was the most complex of the three techniques [19]. The associated clinical syndrome has been named familial defective apolipoprotein B- 100 (FDB) [20].

Besides age, sex, and geographic origin, variation in the LDLR gene was the most powerful determinant of variation in total cholesterol and LDL cholesterol levels [21]. The glutamine-for-arginine substitution at position 3500 of apolipoprotein (apo) B-100 leads to defective binding of apo B-100 to the low density lipoprotein (LDL) receptor and accumulation of LDL in the plasma [22]. We tested the modified method by analyzing the effects of different concentrations of native low density lipoproteins (LDL), methylated LDL, as well as LDLs obtained from patients with FDB on cell growth [23].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ,

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