Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR

Research identifies abnormally elevated ACTA2 expression in circular smooth muscle as a key mechanism driving hyperactive contraction and spasm in aganglionic segments of Hirschsprung disease. Using patient samples and Ednrb−/− mouse models, the study demonstrates this abnormal expression begins at embryonic day 15.5.