In a ground breaking paper just published in the international journal Neuron, an international consortium involving scientists and clinicians from Trinity College Dublin, led by their long term collaborator Dr John Landers of the University of  Massachusetts has reported a new Motor Neuron Disease -associated gene (TUBA4A). Dr Landers’ group examined the DNA from 363 people with MND, each of whom also had another family member with the condition. They performed an analysis of every gene in the genome of these patients which generated trillions of individual DNA base cells. Piecing these together, they searched for patterns of rare damaging mutations that appeared more frequently in patients with MND than in people without the disease. They found that more people than expected with MND had an unusual change in the code for a protein in nerve cells that transport vital building blocks from one part of the nerve cell to another. Damage to this transport system leads to dysfunction of the nerve, and understanding this may help scientists to find new treatments for MND.

This important discovery from Dr Lander’s laboratory, which required advanced DNA analysis by Irish scientist Dr Kevin Kenna, and used samples from the MND Research Group in Trinity College and other centres, has added another piece to the jigsaw of the understanding of the causes of MND.

A video describing this discovery and featuring Dr Kevin Kenna is available here

Read the Irish Times article here