Functional Analysis of TRPV6 Polymorphisms / 한국실험동물학회지

ABSTRACT

The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel transient receptor potential vanilloid 6 (TRPV6). The putatively-selected TRPV6 haplotype contains three candidate sites for functional differences, namely derived non-synonymous substitutions C157R, M378V and M681T. Functional electrophysiological characteristics between wild-type and mutant (C157R, M378V and M681T) TRPV6 proteins were investigated by cloning the mutant TRPV6 forms, transfecting cell lines, and carrying out electrophysiology experiments via patch clamp analysis. No statistically significant differences in biophysical channel function were found although one property, namely Ca2+-dependent inactivation, may show functionally-relevant differences between the wild-type and mutant TRPV6 proteins. This study shows that Ca2+-dependent inactivation is one of the good differentiation characteristics in TRPV6, and will be useful in an advancing our knowledge about TRPV6.