A new type of inherited catalase deficiencies: Its characterization and comparison to the Japanese and Swiss type of acatalasemia

Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected. Differences between the deficiencies reported from Hung ary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. Molecular biological method s were used to compare the previously reported types of catalase deficienci es in Japan and the Hungarian deficiencies. Three mutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to Cr substitution in intron 7 ) are responsible for decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet been characterized. These are n ot the mutations observed in Japan. Changes in lipid and carbohydrate metab olism and the high incidence (12.7%) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inherited catalase deficiency are at risk of atherosclerosis and diabetes: mellitus, The Hungarian subjects wer e detected during screening of a large population for catalase activity; no overt disease state was associated with the deficiencies. We hypothesize t hat the increased risk of disease may be due to prolonged exposure to eleva ted levels of blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase, (C) 2001 Academic Press.