Effect of SNPs on creatine kinase structure and function: identifying potential molecular mechanisms for possible creatine kinase deficiency diseases.

ABSTRACT: Single-nucleotide polymorphisms (SNPs) are common genetic material changes that often occur naturally. SNPs can cause amino acid replacements that may lead to severe diseases, such as the well-known sickle-cell anemia. We constructed eight SNP mutants of human brain-type creatine kinase (CKB) based on bioinformatics predictions. The biochemical and biophysical characteristics of these SNP mutants were determined and compared to those of the wild-type creatine kinase to explore the potential molecular mechanisms of possible creatine kinase SNP-induced diseases. While the reactivation of six SNP mutants after heat shock dropped more than 45%, only three of them showed notable increases in ANS fluorescence intensity and decreases in catalytic efficiency. Among them, H26Y and P36T bind substra

SUBMITTER: Li C 

PROVIDER: S-EPMC3457962 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature