CAJ | 학술논문

MYO1E基因位于染色体15q21-22,编码非肌源性肌球蛋白I,即myosin 1e。 myosin 1e与基于肌动蛋白纤维的细胞骨架关系密切,对于维持肾小球足细胞的形态和运动功能以及肾小球滤过屏障的完整性具有重要作用。 MYO1E基因突变所致激素耐药型肾病综合征呈常染色体隐性遗传,儿童期发病,对激素耐药。但是,部分携带MYO1E基因突变的SRNS患儿对环孢霉素A有部分效应。 MYO1E基因突变分析有助于指导SRNS的治疗和判断预后。
MYO1E기인위우염색체15q21-22,편마비기원성기구단백I,즉myosin 1e。 myosin 1e여기우기동단백섬유적세포골가관계밀절,대우유지신소구족세포적형태화운동공능이급신소구려과병장적완정성구유중요작용。 MYO1E기인돌변소치격소내약형신병종합정정상염색체은성유전,인동기발병,대격소내약。단시,부분휴대MYO1E기인돌변적SRNS환인대배포매소A유부분효응。 MYO1E기인돌변분석유조우지도SRNS적치료화판단예후。
MYO1E gene is located on chromosome 15 and encodes myosin 1e,which acts as an actin-based molecular motor of cytoskeleton. Myosin 1e is critical to maintain the podocyte function and the conse-quent integrity of the glomerular filtration barrier. Mutations in MYO1E gene has been indentified to be the cause of childhood-onset,familial steroid-resistant focal segmental glomerulosclerosis. Surprisingly,three patients with MYO1E mutations had partial remission by cyclosporine therapy. Detection of the MYO1E gene in the patients suffering from steroid-resistant nephrotic syndrome will be beneficial to make therapeutic decisions and predict prognoses.