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Common variation in gene linked to structural changes in the brain
Date:8/17/2009

dy, and 655 healthy and demented patients, largely with Alzheimer's disease, from the ADNI study.

"The most statistically significant association between the two groups involved a minor allele of a single polymorphism, an inherited genetic variation that is found in more than one percent of the population," said co-author Nicholas J. Schork, PhD, of the Scripps Translational Science Institute. "This variation resulted in structural brain changes, such as reduced surface area in the brain's cortex, the area that plays a key role in memory, attention, perceptual awareness, thought and language." Although expressed in all cells, the MECP2 gene is developmentally regulated and exists in two different genetic transcripts within the brain's neuronal cells. Changes in brain structure caused by this gene are specific to males, since the variation is found on the X chromosome, but the functional, cognitive consequences aren't yet known.

The fact that broader, common variations in the area surrounding the MECP2 gene also resulted in changes to the brain structure suggests that this gene may be a promising candidate gene for further study, according to Dale. "Since each individual genetic mutation causes only small changes, the so-called 'junk DNA' may be where the action is," he said. These regions may not change the gene or the protein it encodes, but change the regulation of the gene, he added.


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Contact: Debra Kain
ddkain@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

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