Investigators have found that a loss of function of the PABPN1 protein, in addition to clump formation, may contribute to OPMD.
posted on January 7, 2010 - 11:08am
New findings strongly suggest that oculopharyngeal muscular dystrophy (OPMD) can't be explained solely on the basis of the formation of potentially toxic protein clumps in muscle cells. The loss of function of a protein known as PABPN1 appears to be a likely factor in this disease as well.
The findings may lead to new therapeutic strategies.
About the new findings
Seattle resident Ken Lang (see “Like a Frog”) says he knew a disease that impairs swallowing and speaking was a possibility for him, because his father, uncle and grandmother had been affected by such a disorder.