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Apolipoprotein B gene polymorphism and plasma lipid levels in phenylketonuric children

Elvira Verduci1, Carlo Agostoni, Maria Luisa Biondi

  • 1Department of Pediatrics, San Paolo Hospital, University of Milan, 8 Via A. di Rudini, Milan I-20142 Italy.

Prostaglandins, Leukotrienes, and Essential Fatty Acids
|June 23, 2004
PubMed

Insights

Apolipoprotein B (apoB) gene variations influence LDL cholesterol in children with phenylketonuria (PKU). The XbaI X+/X+ genotype was linked to higher LDL cholesterol levels in PKU children on a controlled diet.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
  • Lipid metabolism is influenced by genetic factors, including apolipoprotein B (apoB) and apolipoprotein E (apoE) gene polymorphisms.
  • Understanding these genetic influences is crucial for managing metabolic health in PKU patients.

Purpose of the Study:

  • To investigate the association between apolipoprotein B (apoB) gene polymorphisms and blood lipid levels in children with PKU.
  • To examine the influence of apoE polymorphisms in conjunction with apoB polymorphisms on lipid profiles.
  • To explore potential gene-diet interactions affecting lipid metabolism in this population.

Main Methods:

  • Study included 82 children with PKU (ages 4-12 years) on a controlled diet.
  • Dietary intake and plasma biochemical parameters were assessed every six months.
  • DNA was extracted from blood for restriction-enzyme analysis of apoB (XbaI, MspI, EcoRI) and apoE (E2, E3, E4) gene polymorphisms.

Main Results:

  • No significant differences in energy intake, dietary lipids, or apoE polymorphism distribution were observed among apoB polymorphism subgroups.
  • Children with the XbaI X+/X+ apoB genotype exhibited significantly higher plasma LDL cholesterol levels compared to those with X-/X- or X-/X+ genotypes.
  • These findings suggest a genotype-specific response to dietary habits.

Conclusions:

  • Apolipoprotein B (apoB) gene polymorphisms, specifically the XbaI site, are associated with variations in LDL cholesterol levels in PKU children on diet.
  • The observed gene-related response to dietary habits may extend to non-PKU individuals, particularly those on low-fat, low-cholesterol diets.
  • This highlights the importance of considering genetic predispositions in lipid management strategies.

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