Stories about: Michael Coulter

Gene mutation in children with microcephaly reveals an essential ingredient for brain development

This electron microscope image shows two multivesicular bodies in the dendrites of neighboring neurons in the cerebellum of a normal mouse. Each contains vesicles bearing sonic hedgehog. (Michael Coulter/Boston Children’s Hospital)

In 2012, researchers in the Boston Children’s Hospital lab of Christopher Walsh, MD, PhD, reported a study of three unrelated families that had children with microcephaly. All had smaller-than-normal brains — both the cerebrum and the cerebellum were reduced in size— and all had mutations that knocked out the function of a gene called CHMP1A.

It was clear that CHMP1A is needed for the brain to grow to its proper dimensions. But the study stopped there.

“Then I came along, and my goal was to figure out what this gene is doing in brain during development, and why, when you lose it, you have a small brain,” says Michael Coulter, MD, PhD, who joined the Walsh lab as a student in 2012.

Read Full Story | Leave a Comment