How One Key Gene Could Cause Brain Disability In Children

Scientists first discovered that mutated TUBB5 genes may cause microcephaly in 2012 by manipulating brain development in unborn mice. They also examined three child patients with microcephaly. In a new study, published in the journal Human Molecular Genetics, the authors build upon the 2012 research, discovering the first direct evidence that the gene causes microcephaly in three human patients.

The work could have implications for disorders more common than microcephaly, such as autism or schizophrenia. "TUBB5 works like a type of scaffolding inside neurons, enabling them to shape their connections to other neurons, so it's essential for healthy brain development," said Dr. Julian Heng, of the Australian Regenerative Medicine Institute at Monash University, in a statement. "If the scaffolding is faulty, in this case of TUBB5 mutates, it can have serious consequences."