Connecting genetics to diseases

An approach that can help researchers determine how mutations contribute to diseases, with implications for multiple sclerosis (MS), is described this week in Nature Structural & Molecular Biology.Studies of the human genome have allowed researchers to determine which mutations are associated with certain diseases, but many of these mutations are not easily linked to a specific gene. This creates a disconnection between genetic research and disease treatment as treating a genetic disease can be difficult if you don’t know which gene to target.Fernando Casares, Jose Luis Gomez-Skarmeta and colleagues studied the evolutionary conserved binding sites of a protein, CTCF, to DNA, which creates boundaries between genes so that their activities can be individually regulated. They show that, as predicted by CTCF binding sites, a mutation linked to MS within a region of one gene affects the adjacent neighboring gene. The methodology of examining evolutionary conserved CTCF distribution allows them to identify the gene in this region of DNA that may contribute to MS, though Casares and Gomez-Skarmeta propose that this approach may be effective for other diseases as well.