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31st July 2017
09:50am BST
A team of scientists from Michigan State University in the US have identified what they are calling 'a rogue gene' known as GNAO1 that triggers seizures or involuntary movements in babies who are just days old.
Researchers say the malfunctioning gene is behind two recently identified conditions known as Early Infantile Epileptiform Encephalopathy (or EIEE17), and Neurodevelopmental Disorder with Involuntary Movements (or NEDIM). Both conditions severely alter the lives of the children they affect and have left scientists searching for answers and treatment options.
Children with the diseases are unable to walk or feed themselves due to uncontrollable movements, and can't get through a day without some form of convulsion or seizure.
Dr Rick Neubig, chair and professor of pharmacology and toxicology at MSU, says the discovery of GNAO1 and the transformations it can take on, could put an end to its devastating effects:
"Our results now show us which GNAO1 mutations cause EIEE17, which is a particular form of epilepsy, and which cause movement disorders like NEDIM. This work will really help us better understand these two rare conditions."
The GNAO1 gene, or G Protein Subunit Alpha O1, produces a protein that carries signals from the outside of a nerve cell to the inside. In the brain, nerves communicate by releasing chemical signals, or neurotransmitters that go to another nerve and either stimulate it or restrain it. Dr Neubig says mutations can cause the signals to become weaker - or completely absent - resulting in a lack of nerve function which could spark seizures:
"We can now make sense of these mutations that we're seeing in children. Our results predict that drugs that block the signals that are too strong could help in the movement disorder while drugs that make the weaker signals stronger could help these epilepsy patients."Up until now, scientists and doctors have struggled to understand these differences, leaving them guessing at how to treat the conditions. According to Professor Neubig, there are 33 known mutations of GNAO1, with about half causing epilepsy and the other half causing movement disorders:
"Even though more and more GNAO1 mutations are being discovered every day, they're still rare, less than one out of 1000. We're now starting to use mice that will carry the human mutations related to both diseases. We're also working to set up human studies to better understand the movement disorder that some of these children can have as well."
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