FUS clumps found in majority of cases of MND

 7 May 2010

Chicago MND researchers led by Dr Han-Xiang Deng and Professor Teepu Siddique have for the first time been able to make a connection between a biochemical pathway recently implicated in the rare, inherited form of MND (known as familial MND) and sporadic MND.

The research, published in the journal ‘Annals of Neurology’ found clumps of the ‘FUS’ protein in motor neurones of people with familial MND AND in motor neurones of people with sporadic MND.

What does this mean for people affected by MND?

One of the keys to understanding what causes motor neurones to die in MND is to understand which proteins are deposited in affected motor neurones. Deposits, or clumps, of proteins are common to many neurodegenerative diseases, the main difference between the diseases is which proteins are found.


What did the researchers find?

By studying brains and spinal cords donated from 78 people who had ALS (the most common form of MND) and 22 controls, the researchers found FUS deposits sitting alongside TDP-43 deposits in motor neurones of most of the people who had ALS.

The TDP-43 protein was the first protein discovered to be consistently deposited in the motor neurones of people who had MND. The results from this Chicago research group showing that FUS proteins accumulate in most cases of MND, alongside TDP-43 is the second discovery of its kind.

The efforts of many people around the world will now be focused on confirming these exciting results which take us closer to understanding the causes of MND.


How did people contribute to this research?

All of these studies have been conducted using post-mortem brain and spinal cord tissues from those that have chosen to donate these tissues for MND research after their deaths.

More information on tissue donation: Res Inf L -Helping MND research through tissue donation (83 kb)


Dr Brian Dickie, our director of research development says that: "This research adds weight to the opinion of many scientists that we may at last be homing in on some of the key pivotal disease processes that are occurring in MND.

"It is looking like TDP-43 and FUS proteins represent a ‘smoking gun’ in most forms of the disease."