Recent advances in OPMD research
- Number 191
- Date 11 June 2012
Location: Naarden
Co-sponsoring:
This workshop was co-sponsored by the Netherlands Organisation for Health Research and Development ZonMw
During the weekend of 8th to 10th June 2012 twenty clinical, basic scientists funding agency representatives were gathered in Naarden, The Netherlands to discuss clinical and molecular aspects of the late-onset muscular disorder oculopharyngeal muscular dystrophy (OPMD). Delegates were from ENMC member countries (France, Denmark, the Netherlands and the UK) and three non-member countries (United States and Canada). The meeting was the first ENMC workshop dedicated to OPMD.
Background and Aims of the Workshop
Single amino acid repeat expansions are now recognized to be a common cause of human disease. While most of these expansion mutations create increasing lengths of polyglutamine (poly-Q) tracts that cause progressive neurodegenerative disorders, polyalanine tract expansions have also been identified as underlying several monogenic disorders. These disorders are recognized by the presence of salt-resistant insoluble bodies, which results from accumulation of the expanded mutant proteins. The protein aggregation disorders are usually characterized by late onset and progressive neurodegeneration. Among these, a polyalanine tract expansion in the poly(A)-binding protein nuclear 1 (expPABPN1) causes oculopharyngeal muscular dystrophy (OPMD). PABPN1 is ubiquitously expressed and it regulates mRNA stability. Nevertheless it is unclear how is causes muscle weakness OPMD. It is not known why symptoms develop only after midlife and in subsets of skeletal muscles So far, there are no medical options to recover muscle weakness in OPMD.
Outcomes of the Workshop
During the workshop, we discussed:
How this Will Benefit Patients
Recent progress in identifying molecular mechanisms that are associated with OPMD and the molecular function of PABPN1 offer the prospect of transforming this knowledge to medical options for patients. Retaining close interaction between clinical and molecular teams will speed up speed the development of specific therapeutic approaches for OPMD. OPMD is a rare disorder and therefore international efforts can help in developing new treatments for transfer into the clinic.
A full report of the workshop has been published in Neuromuscular Disorders.
(For a copy of the report, click here.
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