New genetic discoveries about dystonia could lead to treatments, according to Liverpool researchers.
The researchers say that mutations in the gene encoding the protein hippocalcin are the cause of primary isolated dystonia.
Now they have set out how this affects the nervous system, showing that it causes "subtle" defects in signalling in neurons.
They have shown how hippocalcin interacts with specific types of calcium channels.
Researcher Professor Bob Burgoyne, of Liverpool University, said: “These findings provide a clue towards the development of a potential new treatment as it is possible that use of drugs that inhibit the key calcium channels regulated by hippocalcin could help reduce the impact of the inherited disorder.”
Fellow researcher Dr Nordine Helassa said: “We can now understand for the first time how these mutations would have important physiological consequences that would lead to abnormalities in neuronal function.
"Excessive neuronal activation that could result in aberrant signalling in the brain of affected individuals.”
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. Human Molecular Genetics 7 April 2017 [abstract]
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