Genetic analyses reveal novel mutations as causes of startle disease
Tuesday, August 7, 2012 - 14:30
in Biology & Nature
Two new studies identify genetic mutations that play important roles in the condition commonly referred to as startle disease. Startle disease is characterized by an exaggerated response to noise and touch, which can interfere with breathing, cause catastrophic falls and even result in death. The newly identified genetic mutations affect how the signaling molecule glycine, which is responsible for sending messages between nerve cells, is both moved around and used in these cells.