Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.

ABSTRACT: Triosephosphate isomerase (TPI) deficiency is a unique glycolytic enzymopathy coupled with neurodegeneration. Two Hungarian compound heterozygote brothers inherited the same TPI mutations (F240L and E145Stop), but only the younger one suffers from neurodegeneration. In the present study, we determined the kinetic parameters of key glycolytic enzymes including the mutant TPI for rational modelling of erythrocyte glycolysis. We found that a low TPI activity in the mutant cells (lower than predicted from the protein level and specific activity of the purified recombinant enzyme) is coupled with an increase in the activities of glycolytic kinases. The modelling rendered it possible to establish the steady-state flux of the glycolysis and metabolite concentrations, which was not possible experi

SUBMITTER: Olah J 

PROVIDER: S-EPMC1316309 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature