Mechanism of DMD with gene defect and change of protein structure / 中国病理生理杂志

ABSTRACT

AIM:To examine the relationship between the gene defect,change of protein hydrophobicity,spacial structure change and clinical phenotypes of Duchenne muscular dystrophy(DMD),and to explore the molecular pathogenesis of DMD.METHODS:The gene sequences of 59 cases of DMD/BMD patients with deletion from mutation were analyzed.The relationship between the protein hydrophobicity,3D-spacial structure and clinical phenotypes was examined by biological informatic technology.RESULTS:50 cases of frameshift mutation were all DMD.In other 5 cases with codon mutation that involved the 3rd hydrophobic region,4 cases were diagnosed as DMD and the rest one was BMD.The exon 3 deletion leaded to the intortion of dystrophin N-terminal,which in turn affected the combination of dystrophin and troponin resulting in the DMD pathopoiesis.CONCLUSION:The severity of clinical phenotypes of muscular dystrophy diseases is related to whether the deletion destroys the reading frame,involves the 3rd hydrophobic region or changes the protein special structure.The biological informatic technology provides a new potential research methodology for studying the pathogenesis of DMD.