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Researchers at Trinity College Dublin have found that one in 347 men and one in 436 women are likely to develop motor neuron disease in their lifetime. Motor neuron disease (MND) is a devastating disease that causes progressive paralysis, increasing physical disability and ultimately death within an average of two to three years. MND reaches more than 350 people in Ireland and one person is diagnosed every three days.
In an article published today, Monday 22North Dakota July 2019 in the prestigious American medical journal JAMA Neurology, the Irish team of researchers, led by Professor Orla Hardiman of the Academic Unit of Neurology and Dr. Russell McLaughlin, of the Smurfit Institute of Genetics of Trinity College Dublin, conducted the largest study ever done from 1117 people diagnosed with motor neuron. "nature versus culture" in the causes of MND.
The lead author, Dr. Marie Ryan, showed that genetics accounted for about 52% of the risk of developing MND. This means that other important factors or exposures must also be present for the disease to develop, and that the overall risk of developing the disease among other family members remains low.
Dr. Ryan also examined carriers of known genetic mutations badociated with motor neuron disease. In Ireland, about 10% of people with motor neurons, the disease is caused by the abnormality of a gene called C9orf72, which is transmitted in families. Dr. Ryan discovered that those who carried an abnormal copy of this gene and developed a MND were more likely to have inherited their mother.
Dr. Marie Ryan said:
Although different hereditary patterns based on the person who transmits the gene have been reported in other neurological disorders, it is the first time that this type of hereditary pattern has been discovered in people with neurological disorders. a motor neuron disease.
The main message is that genetic and non-genetic factors also contribute to the risk of developing MND. The fact that 50% of the risk is in our genes reinforces our ongoing research to identify the many interacting genes that contribute to the causes of motor neuron disease. "
Professor Orla Hardiman, lead author, said:
This will help us find new treatments for this devastating disease, by taking a precision medicine approach.
We have already found that MND can cluster with other conditions such as dementia, schizophrenia, bipolar disorder, autism and substance abuse disorders in about 30% of families. This means that several genetic factors working together will probably play an important role in the development of MND. Finding the interaction of these genes will help us find new, more effective treatments. "
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