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. The work was published in December in the
American Journal of Human Genetics (Charlesworth et al., 2012).
Insights into the causes of rarer, familial forms of the disease may
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.
It is hoped that an ion channel might represent a feasible target for
the development of new treatments.
LINKS:
http://www.ucl.ac.uk/ion/departments/molecular/themes/neurogenetics
http://www.sciencedirect.com/science/article/pii/S0002929712005861