A new mutation in the human lipoprotein lipase gene causing familial hyperchylomicronaemia.

AUTOR(ES)

Anwar, R

RESUMO

Lipoprotein lipase plays a major role in the regulation of lipid metabolism. The enzyme acts to hydrolyse triglycerides, providing free fatty acids for energy generation or storage, thus affecting the maturation of circulating lipoproteins. Biochemical and molecular analyses were performed on two siblings of consanguineous Pakistani origin, presenting with hyperchylomicronaemia, which revealed that the disorder resulted from lipoprotein lipase deficiency. Molecular analysis of the lipoprotein lipase gene has revealed a novel homozygous mutation, leucine to proline at amino acid residue 303, within the amino terminal domain of the protein.

Documentos Relacionados

• Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
• Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
• A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
• A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
• Abnormal Lipoprotein Lipase in Familial Exogenous Hypertriglyceridemia