Study Finds Genetic Cause in 1 in 4 Motor Neuron Disease Cases

Researchers
Researchers

London:  An international team of researchers has found that genetic factors play a greater role in motor neuron disease (MND) than previously understood, according to a study published in the journal Nature Genetics.

The study revealed that a genetic cause can be identified in around one in four patients, compared to earlier estimates that suggested a link in one in five cases.

Researchers found that 25 percent of patients carried genetic variations associated with the disease, regardless of family history, indicating that genetic factors are a key element in disease development.

The study was conducted as part of Project MinE, a global research initiative aimed at improving understanding of MND.

The research team analysed DNA samples from more than 18,000 patients and found that only about 10 percent had a known family history of the disease, suggesting that genetic factors are more widespread than previously recognised.

The diversity of the study cohort enabled researchers to identify rare genetic mutations that had not been detected in earlier studies.

Dr. Ammar Al-Chalabi, from the Maurice Wohl Clinical Neuroscience Institute at King’s College London and a co-author of the study, said the findings highlight the importance of genetic factors in about a quarter of MND cases, regardless of family history, and support the expansion of genetic testing for patients.

Motor neuron disease is a progressive condition that affects nerve cells responsible for movement. Over time, patients may lose the ability to move, speak and breathe, and the disease is often fatal within a few years of diagnosis.

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