engleski

Missense mutation W86R in exon 3 of lipoprotein lipase gene in Croatian boy with chylomicronemia

We described the history of disease of 5-year old boy with chylomicronemia. Chylomicronemia, recurrent abdominal pain, eruptive xantomas were the only clinical improvement for LPL activity deficit and a sign to detect the real primary cause on molecular instance. SSCP-analysis, DNA-sequencing and finally RFLP analysis showed that a child is homozygote and his parents are heterozygotes for TGG→ CGG change in codon 86 of the lipoprotein lipase gene, which leads to W86R amino acid substitution. DNA sequence analysis showed also a silent mutation on third exon of father’ s DNA, V108V. Determinations of some LPL gene polymorphisms showed that children and his parents have Hind III/H+H+, and 447SS genotypes, but for Pvu II parents have P+P-, and a child P+P+ genotype. The etiology of the disease in this boy is satisfactory clarified at the molecular genetic level. W86R mutation is a main reason for production of nonfunctional enzyme and consequently triacylglycerol over 15 mmol/L. This is a risk for developing very often an acute pancreatitis. Decreased LPL activity leads to elevates triacylglycerol level and reduced HDL-cholesterol, both risk factors for the development of coronary artery disease. LPL genotyping of especially young patients with hypertriglyceridemia is therefore necessary and justifiable.

lipoprotein lipase; mutation

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