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

Autori
Pašalić, Daria ; Jurčić, Zvonko ; Ferenčak, Goran ; Leren, Trond Paul ; Đurović, Srđan ; Stavljenić Rukavina, Ana

Izvornik
Clinica Chimica Acta (0009-8981) 343 (2004), 1-2; 179-184

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
lipoprotein lipase; mutation

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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