Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

Lysinuric protein intolerance (LPI) is a recessively inherited amino acid disorder characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Recently, cDNAs encoding the related proteins hCAT-2A and hCAT-2B have been cloned. These two carrier proteins are most likely the product of the same gene, hCAT-2. Using the hCAT-2B cDNA, we assigned the hCAT-2 gene to chromosome 8p22. Furthermore, by linkage analysis in Finnish LPI families, we ruled out that hCAT-2B is involved in LPI disease.

40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004

Estimated intake levels for Finnish children of methylmercury from fish

Abstract Methylmercury (MeHg) is a well-known neurotoxic agent, and consumption of contaminated fish is the principal environmental source of MeHg exposure in humans. Children are more susceptible to adverse effects than adults. No previous specific data exist for intake by Finnish children of methylmercury from fish. We estimated fish consumption and MeHg intakes from species most commonly consumed by Finnish children aged 1–6 years. The total mercury concentrations were determined in fish species consumed, and age-specific methylmercury intakes were derived. We also examined safety margins and the proportion of children exceeding the tolerable daily intakes set by international expert bod…