TUBB5 gene responsible for microcephaly: IMP study

Published on December 14, 2012 at 3:28 AM · No Comments

Neurobiologists at the Research institute of Molecular Pathology (IMP) in Vienna have discovered one of the key genes required to make a brain. Mutations in this gene, called TUBB5, cause neurodevelopmental disease in children.

About one in ten thousand babies is born with an abnormally small head. The cause for this disorder - which is known as microcephaly - is a defect in the develoment of the embryonic brain. Children with microcephaly are severely retarded and their life expectancy is low. Certain cases of autism and schizophrenia are also 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 IMP, has now found a new gene which is responsible for Microcephaly. Together with his 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.

The IMP-researchers, together with collaborators at Monash University (Victoria, Australia), were able to interfere with the function of the TUBB5 in the brains of unborn mice. This led to massive disturbances in the stem cell population and impaired the migration of nerve cells. Both, the generation of large numbers of neurons from the stem cell reservoir and their correct positioning in the cortex, are essential for the development of the mammalian brain.

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