Skeletal muscle channelopathies: severe infantile phenotypes and sudden infant death syndrome

Electrical signals that control muscle contraction occur when ions move in and out of muscle cells. Ion channels lie across the muscle cell wall and act as a gateway for ions to move through. If a channel malfunctions, muscles such as those that are part of the respiratory system, cannot function properly. Pilot data implicates gene mutations in ion channels in severe conditions where infants’ breathing is impaired. We think this may include some cases of sudden infant death syndrome (SIDS)

I will look for ion channel gene mutations in infants whose breathing muscles are impaired and in SIDS. Using immunohistochemistry and RNA analysis I will determine if developmental changes in ion channels and muscle fibre types make the respiratory muscle of infants more susceptible to the effects of these gene mutations. We will develop a national registry of SIDS cases so we can better understand laboratory-based findings. 

This research will uncover a novel mechanism of respiratory failure in SIDS.