Genes that cause familial MND
In around 5 - 10% of cases, MND is directly caused by a mistake in a gene. This mistake can be passed down from parent to child.
The inherited form of MND is rare but can be devastating for families affected by it. More information on the issues surrounding familial MND is available in Research info sheet B - Inherited MND (87 kb) .
In the 1990s, scienitists identified the faulty gene that accounts for around 20% of these rare cases of inherited MND. This gene is called SOD1. In 2008 and 2009 researchers discovered that mistakes in genes called TDP-43 and FUS could also cause the familial form of the disease, with each gene accounting for 3-5% of familial cases. These discoveries represent major breakthroughs because they can provide important clues as to how motor neurones are damaged in MND and may advance our understanding of all types of the disease. More information is available from Research info sheet C - Genetics & familial MND (84 kb)
Genetic risk factors in 'sporadic MND'
For the most common 'sporadic' form of MND, subtle variations in certain genes are thought to contribute to the chances of developing the disease. These genes are sometimes known as susceptibility genes. Whilst certain variations in these genes may slightly increase the risk of a person getting MND, they do not on their own cause the disease. Sporadic MND only develops when a genetically susceptible person encounters a number of as yet unidentified lifestyle and environmental factors. Sporadic MND is not passed from parent to child.
The identification of susceptibility genes could provide clues to the underlying mechanisms of MND. The Association is funding research that uses new technology to hunt for these genes.
Other news about susceptibility and protective genes can be found in the following articles:
Research
