January 07, 2010 Researchers Reveal Molecular Origin of a
Spectrum of Human Axon Guidance Disorders Scientists who
searched across five continents for patients who have a rare eye
movement disorder have finally identified its genetic root. In
the process, they have found that specific mutations in this new
disease gene can cause additional errors in neurodevelopment and
neuronal survival, leading to the definition of a new series of
neurological disorders that interfere with nerve cells' ability
to wire up properly. They now refer to these as the TUBB3
syndromes. The study, which is published in the January 8, 2010,
issue of the journal Cell, reveals these syndromes can be caused
by any one of eight mutations in the TUBB3 gene, which encodes a
structural protein in neurons. The collaborative effort was led
by Howard Hughes Medical Institute (HHMI) investigator Elizabeth
Engle of Children’s Hospital Boston. “The clinical and MRI
findings in these participants suggested that the primary error
was in the guidanc