Discovery of the DYT1 gene
and its encoded protein, torsin A, will facilitate further understanding
of the molecular basis of this crippling disease. This discovery is the
first step in being able to design new therapies or treatments for people
that suffer from early-onset torsion dystonia. The next task for researchers
will be to clarify the function of this 'torsin A' protein. Researchers
plan to develop an animal model for early-onset torsion dystonia which
"could provide valuable insights into the environmental factors that influence
the onset of this disorder" (Ozelius...et
al,1997). Interventional therapies may develope to prevent the mutated
gene from causing this disorder once these environmental stresses are identified.
Understanding the function of the torsin A protein will also provide insight
into the developmental patterning of the neuronal complexity of the basal
ganglia, whose function is disrupted in other movement disorders such as
Parkinson's disease. Thus, this research may also lead to insight into
Parkinson's disease.
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