Simons M, Huber T B
Mount Sinai School of Medicine, Department of Developmental and Regenerative Biology, New York, New York 10029, USA.
Kidney Int. 2008 Mar;73(6):671-3. doi: 10.1038/sj.ki.5002798.
Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type. The gene product nephrin is a structural component of the glomerular slit diaphragm formed by neighboring podocytes. Nephrin has also been suggested to be involved in signaling processes that are important for podocyte survival and differentiation. A new study by Doné et al. reports that the absence of nephrin leads to the lack of slit diaphragms but does not affect podocyte apoptosis and gene expression patterns.
NPHS1基因的突变会导致芬兰型先天性肾病综合征。该基因产物nephrin是由相邻足细胞形成的肾小球裂孔隔膜的结构成分。也有人提出nephrin参与了对足细胞存活和分化至关重要的信号传导过程。多内等人的一项新研究报告称，nephrin的缺失会导致裂孔隔膜的缺乏，但不影响足细胞凋亡和基因表达模式。
