Features of native recombinant HsDH protein and its five clinically interesting patient mutation variants.

The activities of human dehydrogenase and its variants were measured by detecting spectrophotometrically the formation of magnesium complex of 3R-hydroxydecanoyl-CoA at 303 nm from the 2E-decenoyl-CoA substrate in concentration range from 0.5 to 30 µM. Kinetic parameters are calculated by using GraFit 5.0 program (Erithacus Software). Main features characterizing the observed structural changes in the variant proteins and the patients are also given (and discussed in more details in the text).n.d. = not determined (recording reliable and comparable data would have necessitated using a large surplus of NAD+).