A big step forward has been made in understanding how polymorphisms in a region of junk non-coding DNA (an intron) can affect the risk of heart disease. The intron in question is located on chromosome 9, and until now it’s role in increasing cardiovascular risk has been unknown.
Researchers have constructed a knock-out mouse strain lacking this intron. The knockout affects 2 genes located over 100 000 base pairs away. These genes are cdk cell cycle inhibitors and absence of the intron causes reduced expression of these genes. Cells taken from the knockout mice aortas are shown to multiply much faster, offering a possible process helping to explain the increased risk.
Scientists are now keen to use this research to demonstrate the importance on non-coding DNA to human disease and are keen to discover what fraction of human diseases have variation based on polymorphiskms in non coding DNA.
More info:
http://www.nature.com/news/2010/1002...s.2010.82.html
Visel, A. et al. Nature advance online publication doi: 10.1038/nature08801 (2010).
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