Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Atherosclerosis
; 180(2): 311-8, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-15910857
ABSTRACT
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) genes, respectively. Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B. Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL. Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids. Proband P. E. was heterozygous for a mutation in intron 9 (IVS9-1G>A), previously reported in an ABL patient. We failed to find the second pathogenic mutation in MTP gene of this patient. No mutations were found in apo B gene. The third proband (D.F.) had a less severe lipoprotein phenotype which was similar to that of heterozygous FHBL and appeared to be inherited as a co-dominant trait. However, he had no mutations in apo B gene. He was found to be a compound heterozygote for two missense mutations (D384A and G661A), involving highly conserved regions of MTP. Since this proband was also homozygous for varepsilon2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform.
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Base de dados:
MEDLINE
Assunto principal:
Abetalipoproteinemia
/
Proteínas de Transporte
/
Hipobetalipoproteinemias
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article