Synchrotron radiation circular dichroism: a new tool for identification of point-mutation protein

Many diseases are associated with the mutation of wild-type proteins. Usually, a point mutation can lead to severe clinical outcomes. Few techniques have the ability to detect the minute differences between the wild-type and mutant proteins in solution under near physiological conditions. Circular dichroism (CD) is an established and valuable technique for examining protein structure. Because of its ability to sensitively detect conformational changes, it has important potential for identification of mutant protein. Synchrotron radiation CD (SRCD) offers significant enhancements with respect to conventional CD spectroscopy, which will enable its usage for high-resolution conformation detection and as a tool in the point-mutation protein identification. In this report, SRCD was used, as an example, to identify the point-mutations of human phosphoribosyl pyrophosphate synthetase 1 which were associated with an X chromosome-linked disease.