Irish Neurologists Find New Genes For MND

Researchers based at Beaumont Hospital in Dublin have provided new insights into the causes of motor neuron disease.   In a new study published in the journal Human Molecular Genetics on March 1 2008, Dr. Simon Cronin, Research Registrar in Motor Neuron Disease has described a series of genes that may increase the risk for MND.

Dr. Cronin is a member of the Irish MND Research Group, under the leadership of Prof. Orla Hardiman. The work is part of a collaboration involving Prof. Dan Bradley at Trinity College Smurfit Institute of Genetics and the National Institutes of Health in the United States.

Motor neuron disease (MND), strikes people in the prime of their lives and leads to paralysis and death often within three to five years.   There is no known cure and it is estimated that there are 250 people diagnosed with MND in Ireland at any given time.

In the first study of its kind in the Irish population, Dr. Cronin used a new technology called SNP Chip analysis that can detect hundreds of thousands of genetic variations across every human gene in a single experiment.   By comparing the DNA results from Irish MND patients with DNA from healthy control individuals Dr. Cronin has mapped out which genes are most likely to carry risk for MND.

"When we added our Irish results to those from a US and Dutch study, we found a new risk factor for MND called DPP6," said Dr. Cronin, "DPP6 is a gene which is only switched on in the nervous system, and is very interesting as a possible susceptibility factor for MND."

Genetics of the Irish Population

The new Irish research has also given the first detailed insights into the genetic background of Irish individuals, and builds on work carried out by the MND Research group in 2006, in which a new at risk gene for MND was found to occur mainly in people of Irish and Scottish origin.

"We are very excited about our results" said Prof. Hardiman.   "It shows that the genetic structure of the Irish population lends itself very well to finding new genes for rare diseases like MND. We are confident that our continued search will help us to find the causes of MND. This will ultimately help us to develop new treatments for MND and related diseases."

The work was funded by the US based charity Muscular Dystrophy Association, and the Irish Motor Neuron Disease Research Foundation.