People who develop motor neurone disease are victims of rare but specific gene variants, according to the findings of a major genetic study published last night.
Researchers identified one gene variant that increases the risk of developing the disease by 65%.
Reporting in Nature Genetics, researchers revealed a total of three new risk genes for the disease, also known as amyotrophic lateral sclerosis or ALS.
The researchers said that each patient had one or two genes which played a key role in their development of disease. This is in contrast with many conditions which are caused by combinations of small effects from many genes.
The findings come from an analysis of more than 15,000 patients from 15 countries, compared with another 26,000 healthy people.
The researchers say C21orf2 is especially important.
Researcher Professor Ammar Al-Chalabi, from the Institute of Psychiatry, Psychology & Neuroscience, King’s College London, said: "This tells us that ALS is not the result of a few common gene variations that each contribute a little to the risk. Rather, any one of many rare gene variations contributes a large risk for ALS development.
"This insight is crucial as it affects the types of treatment strategies that might be effective."
Fellow researcher Professor Jan Veldin, from the University Medical Centre Utrecht, the Netherlands, said: "Most genetics studies in ALS focus on the familial form of the disease.
"In this study we have found a total of three genomic regions where genetic variation in these regions increases the risk of ALS. One of these regions included a gene named C21orf2. This gene was subsequently shown to harbour rare mutations that directly increase ALS risk.
"This makes the C21orf2 gene extremely interesting for future studies to shed light on the mechanisms that lead to ALS and possibly future therapeutic strategies."
Nature Genetics 27 July 2016 [abstract]
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