In a recent report published in the journal Nature Communications, researchers performed a study to look at epigenetic variations in neurodevelopmental disorders where no genetic mutations could be found. The researchers studied nearly 500 effected individuals and 1,500 control samples and found that rare changes in DNA methylation profiles are more common among individuals with neurodevelopmental disorders than the control group. Using publicly available data generated from the 1000 Genomes Project, researchers concluded that epigenetic variations, or changes in the DNA folding pattern, affect gene expression. When these changes occur in specific regions of a gene, they may contribute to progression of congenital and neurodevelopmental disease.
A summary of the article was posted on GenomeWeb. The full article, “Identification of rare de novo epigenetic variations in congenital disorders,” by Barbosa et al. was published in Nature Communications.
