Researchers from UCL’s Institute of Neurology have identified mutations in the gene ANO3 as the cause of a familial form of cranio-cervical Dystonia.
Dystonia itself is a common neurological disorder which results in involuntary muscle spasms and is characterised by severe abnormal postures due to involuntary muscle spasms and affects an estimated 70,000 people in UK. Currently, there are no cures found for this disabling condition.
The team of researchers, led by Professor Nick Wood and Professor Kailash Bhatia found six changes throughout the gene that might be linked to cranio-cervical dystonia, which triggers abnormal twisting or tremulous movements affecting the face, neck and arms. Of these six changes, three have shown to segregate with disease in three separate families.
It is hoped that insights into the causes of rarer, familial forms of the disease will help shed light on the cellular pathways involved in the disease as a whole.
The new ANO3 gene determines a channel that is found in the striatum, a part of the brain concerned with movement. To date, this is the first work implicating an ion channel as the cause of Dystonia.
Professor Bhatia said:
“This finding is particularly important as the abnormality here pertains to an ion channel dysfunction.
There are hopes that better understanding of this will lead to new treatments for thousands of patients”.
The research is particularly innovative as is hoped that insights into the causes of rarer, familial forms of the disease will help shed light on the cellular pathways involved in the disease as a whole. Furthermore, it raises the question of whether medications could be targeted at the channel to compensate for improper functioning.
Mr Paul King, Chief Operating Officer at The Dystonia Society said:
“The Dystonia Society congratulates Professor Wood, Professor Bhatia and the team at UCL for this innovative discovery.
Finding a cure is the absolute priority for people affected by dystonia and we believe that identifying genes and understanding their mechanisms is the most promising route to achieve this.
We are interested to see that the gene discovered by the UCL team suggests a new channel as the possible cause of dystonia and very much hope that this leads towards effective new treatments."
The research has been published in the American Journal of Human Genetics.