2015 Volume 52 Issue 4 Pages 199-211
The objectives of this study were to clarify whether gene mutations are involved in causing cold constitution in healthy young women and to elucidate its mechanism of onset in the context of the autonomic nervous system. A total of 27 female students were divided into groups of those with cold constitution (n=17) and those without cold constitution (n=10), and the mutation frequencies of obesity-related genes (UCP-1, β2-AR, and β3-AR) and a hypertension-related gene (AGT) were investigated. The results showed that the frequency of β3-AR mutation was greater in women with cold constitution. Compared with individuals without cold constitution, those with cold constitution showed slow recovery of skin temperature after cold-loading test (P=0.006). Subsequently, the study participants were divided into wild type and mutant groups of the β3-AR gene, and the electrocardiogram R-R intervals were evaluated to determine changes in autonomic nervous system activity during the cold-loading test. The mutant group showed a significantly delayed cardiac sympathetic recovery compared to the wild type group. These findings suggest that cold constitution may be caused by the decrease in sympathetic nerve responses induced by β3-AR mutation.
