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磷脂酶Cε1(phospholipase C epsilon-1,PLCE1)基因定位于常染色体10q23.32-q24.1,其编码蛋白为磷脂酶Cε1(phospholipase C epsilon-1,PLCε1)。PLCε1蛋白是最新发现的一种磷脂酶C(phospholipase C,PLC)同工酶,在成熟的肾小球足细胞表达,参与肾小球毛细血管袢的形成和正常发育。近来发现PLCE1基因突变可以引起常染色体隐性遗传性肾病综合征。PLCE1基因移码或无义突变可导致婴儿早发性肾病综合征,其病理特征为弥漫性肾小球硬化(diffuse mesangial sclerosis,DMS);而错义突变可导致局灶性节段性肾小球硬化(focal segmental glo-merulosclerosis,FSGS)。但其确切发病情况及机制目前尚不清楚,本文就PLCE1基因及其编码蛋白与激素耐药性肾病综合征之间的关系作一简要综述。
The phospholipase C epsilon-1 (PLCE1) gene is located on the autosomal chromosome 10q23.32-q24.1 and encodes the phospholipase C epsilon-1 (PLCε1). PLCε1 is a recently discovered phospholipase C (PLC) isoenzyme that is expressed in mature glomerular podocytes and participates in the formation and normal development of glomerular capillary loops. Recently found that PLCE1 gene mutations can cause autosomal recessive nephrotic syndrome. Frameshift or nonsense mutations in the PLCE1 gene lead to an early nephrotic syndrome in infants with pathological features of diffuse mesangial sclerosis (DMS); missense mutations can lead to focal segmental renal Focal segmental glo-merulosclerosis (FSGS). However, the exact pathogenesis and mechanism of PLCE1 are still unclear. In this paper, we briefly reviewed the relationship between PLCE1 gene and its encoded protein and steroid-resistant nephrotic syndrome.