Pathological and molecular genetic studies on oculopharyngeal muscular dystrophy / 中华神经科杂志

ABSTRACT

Objective To study the pathologic and molecular genetic characteristics of Chinese patients with oculopharyngeal muscular dystrophy(OPMD).Methods The ultrastructural muscle biopsies in 6 patients were carried out by using transmission electron microscopy.The DNA was obtained through blood samples from patients(n=11) and the at-risk individuals(n=16).Amplification of the PABPN1 gene mutation region was performed by polymerase chain reaction(PCR).The sequences were obtained and compared with the genomic sequence of the human PABPN1 gene.Results Intranuclear inclusions(INIs) were found by electron microscopy in 4 patients,and the rate of appearance was 18%,20%,34% and 40%.Sequence analysis of exon 1 of PABPN1 gene showed abnormal expansions of the GCG-repeat—(GCG)_8 and(GCG)_(10) in 9 patients.Conclusions INIs might be found by electron microscopy in muscle biopsies of OPMD patients.The rate of appearance of INIs should have positive relationship with the amount of the GCG-repeat.PABPN1 gene mutations might be present among Chinese patients with OPMD,and should have a negative relationship with the age of onset.