Study identifies mutated genes in human diseases


Study identifies mutated genes in human diseases


According to an article published in the open-access journal PLoS Computational Biology, researchers have developed a new way to identify the genetic basis of many common diseases.

The research team, from the University of Turin, Italy and the University of Nijmegen, The Netherlands, is led by Ferdinando Di Cunto and Paolo Provero. They begin by noting that mutations in one or more genes are the starting points for thousands of human diseases. In order to understand how diseases work at the molecular level and to develop treatments, it is important to identify mutated genes. Often, the identity of the affected gene is unknown, but researchers can discern the location of the gene mutation in a chromosomal region containing hundreds of genes.

The study consisted of an analysis of gene expression data - patterns of gene activity in tissues and cell lines - that came from thousands of published experiments. The aim was to identify genes that show patterns similar to the ones of mutated genes in similar diseases. Repeating the process helped the researchers identify candidate genes for 81 diseases, including several types of epilepsy and muscular dystrophy.

Although the results of this work must be strengthened in an experimental setting, this research should significantly simplify the task of understanding the molecular basis of many diseases.

Prediction of Human Disease Genes by Human-Mouse Conserved Coexpression Analysis

Ala U, Piro RM, Grassi E, Damasco C, Silengo L, et al.

PLoS Computational Biology . 4(3):e1000043.

doi:10.1371/journal.pcbi.1000043

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