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Posted on November 7, 2014

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). The team have shown that they can identify new and important causes of Motor Neuron Disease (MND) through the detailed analysis of rare coding variations in DNA from people with MND.

Genes are a code within DNA used to make all the proteins in a human’s body. Some diseases are caused by faulty coding within our genes, leading to the manufacture of defective proteins. Finding these coding faults can help scientists to understand diseases like MND. The disease, which causes a gradual degradation and death of motor neurons, affects about 300 people in Ireland, with some 110 new cases reported each year.

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.

Speaking about this discovery, Orla Hardiman, Professor of Neurology in Trinity College Dublin, Consultant Neurologist at Beaumont Hospital and one of the paper’s authors said: “We are very excited by Dr Landers’ finding for mutations in the gene TUBA4A in some forms of MND. We are particularly proud of the contribution of Dr Kenna, a young post-doctoral scientist who has recently completed his PhD in MND Genetics with our group in Trinity College Dublin.  This form of international collaboration across leading centres will help us to bring new treatments closer to the clinic.”

“We will continue to collect and analyse DNA from Irish patients with Motor Neuron Disease in collaboration with our colleagues in genetics, Dr Russell McLaughlin and Professor Dan Bradley at Trinity, as there are many discoveries still to be made in collaboration with our international colleagues,” she added.

A video describing this discovery and featuring Dr Kevin Kenna is available here:http://youtu.be/d1rCjNSNiI0

The paper is available from Neuron: http://www.cell.com/neuron/home

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