Scientists from the University of Queensland have found a link between a DCC gene mutation, agenesis of the corpus callosum and congenital mirror movement. The discovery has shed new light on the nature of the disorders and their causes. It also opens the door to possible non-invasive prenatal diagnostic tests and the development of new treatments.
The corpus callosum agenesis is a congenital disorder that causes partial or total absence of the corpus callosum. There is talk of the lamina that connects the right and left brain, allowing communication between the two hemispheres. Sometimes the problem occurs together with congenital mirror movement, the other two disorders are presented separately.
Previous research has linked the DCC mutation in humans only to congenital mirror movement. The same mutation in mice, however, had been linked to one agenesis of the corpus callosum. Researchers then thought that the DCC gene had different functions in animals and in people. Scientists from the University of Queensland have analyzed the function of the gene and found that it does not.
The team found that the location of the mutation in the DCC gene is crucial. Depending on where you are located within the gene, only it causes the innate movement of the mirror or in combination with agenesis of the corpus callosum. It is the first genetic mutation on the brain area identified as possible consequences after all mild.