From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy
Schreuder, A.H.C.M.L.; de Die-Smulders, C.E.M.; Herbergs, J.; Koehler, P.J.
Nederlands Tijdschrift Voor Geneeskunde 150(20): 1124-1126
2006
ISSN/ISBN: 0028-2162 PMID: 16756225 Document Number: 601948
Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the 'poly adenylate binding nuclear I protein' (PABN1) gene. This expansion is stable in subsequent generations and is translated into a polyalanine tract. The aberrant protein is found within the intranuclear inclusions and interferes with normal mRNA function.