We have investigated the dysautonomia crisis by evaluating the expression of the familial dysautonomia gene 鈥?IKBKAP, in patients during different crisis stages.
Baseline IKBKAP mRNA levels in white blood cells were evaluated in thirteen FD patients (fourteen crisis events) and compared to mRNA levels at the onset, during, and after recovery from the crisis.
We have found a significant decrease in IKBKAP mRNA level during the crisis, which is restored to a baseline level after recovery from the crisis.
We speculate that the familial dysautonomia crisis pathophysiology might be related, at least in part, to the down regulation of the IKBKAP gene. Yet, it is still unclear whether the down regulation in IKBKAP mRNA is caused by the physiological stress events which have triggered the crisis or whether this molecular change is a consequence of the crisis.