Researchers Uncover Cause of Microcephaly, a Rare Neurodevelopmental Disorder

About one in ten thousand babies is born with an abnormally small head. The cause for this disorder, known as microcephaly, is a defect in the development of the embryonic brain. Children with microcephaly are severely retarded, and their life expectancy is low. Certain cases of autism and schizophrenia also are associated with the dysregulation of brain size.

The causes underlying impaired brain development can be environmental stress (such as alcohol abuse or radiation) or viral infections (such as rubella) during pregnancy. In many cases, however, a mutant gene causes the problem.

David Keays, a group leader at The Research Institute of Molecular Pathology (IMP), has found a new gene that is responsible for microcephaly. Together with PhD-student Martin Breuss, he was able to identify TUBB5 as the culprit. The gene is responsible for making tubulins, the building blocks of the cell’s internal skeleton. Whenever a cell moves or divides, it relies on guidance from this internal structure, acting like a scaffold. For more information, click here to read the full release.