Oltrabella Francesca, Jackson-Crawford Anthony, Yan Guanhua, Rixham Sarah, Starborg Tobias, Lowe Martin
Medical Scientific Liaison-Nephrology, Astellas Pharma, Via Dante, Milano 20123, Italy.
Department of Blood Sciences, Grange University Hospital, Llanyravon, Gwent NP44 8YN, UK.
Hum Mol Genet. 2022 Apr 22;31(8):1183-1196. doi: 10.1093/hmg/ddab307.
Endocytosis is a fundamentally important process through which material is internalized into cells from the extracellular environment. In the renal proximal tubule, endocytosis of the abundant scavenger receptor megalin and its co-receptor cubilin play a vital role in retrieving low molecular weight proteins from the renal filtrate. Although we know much about megalin and its ligands, the machinery and mechanisms by which the receptor is trafficked through the endosomal system remain poorly defined. In this study, we show that inositol phosphatase interacting protein of 27 kDa (Ipip27A), an interacting partner of the Lowe syndrome protein oculocerebrorenal syndrome of Lowe (OCRL), is required for endocytic traffic of megalin within the proximal renal tubule of zebrafish larvae. Knockout of Ipip27A phenocopies the endocytic phenotype seen upon loss of OCRL, with a deficit in uptake of both fluid-phase and protein cargo, which is accompanied by a reduction in megalin abundance and altered endosome morphology. Rescue and co-depletion experiments indicate that Ipip27A functions together with OCRL to support proximal tubule endocytosis. The results therefore identify Ipip27A as a new player in endocytic traffic in the proximal tubule in vivo and support the view that defective endocytosis underlies the renal tubulopathy in Lowe syndrome and Dent-2 disease.
内吞作用是一个极其重要的过程,通过该过程物质从细胞外环境被内化到细胞中。在肾近端小管中,丰富的清道夫受体巨蛋白及其共受体立方蛋白的内吞作用在从肾滤液中回收低分子量蛋白质方面发挥着至关重要的作用。尽管我们对巨蛋白及其配体了解很多,但该受体在内体系统中运输的机制和过程仍不清楚。在本研究中,我们表明27 kDa的肌醇磷酸酶相互作用蛋白(Ipip27A)是洛氏综合征蛋白洛氏眼脑肾综合征(OCRL)的相互作用伙伴,对于斑马鱼幼虫肾近端小管内巨蛋白的内吞运输是必需的。敲除Ipip27A会模拟OCRL缺失时出现的内吞表型,液相和蛋白质货物的摄取均存在缺陷,同时伴有巨蛋白丰度降低和内体形态改变。挽救和共缺失实验表明,Ipip27A与OCRL共同发挥作用以支持近端小管的内吞作用。因此,这些结果确定Ipip27A是体内近端小管内吞运输中的一个新参与者,并支持这样一种观点,即内吞作用缺陷是洛氏综合征和丹特2病肾小管病变的基础。