Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis
Romagnani P, Giglio S, Angelotti ML, Provenzano A, Becherucci F, Mazzinghi B, Mueller S, Amann KU, Weidenbusch M, Romoli S, Lazzeri E, Anders HJ (2016)
Publication Type: Journal article
Publication year: 2016
Journal
Book Volume: 31
Pages Range: 1541-5
Journal Issue: 9
DOI: 10.1093/ndt/gfw234
Abstract
Often the cause of refractory lupus nephritis (RLN) remains unclear. We performed next-generation sequencing for podocyte genes in an RLN patient and identified compound heterozygosity for APOL1 risk alleles G1 and G2 and a novel homozygous c.[1049C>T]+[1049C>T] NPHS1 gene variant of unknown significance. To test for causality renal progenitor cells isolated from urine of this patient were differentiated into podocytes in vitro. Podocytes revealed aberrant nephrin trafficking, cytoskeletal structure and lysosomal leakage, and increased detachment as compared with podocytes isolated from controls. Thus, lupus podocytopathy can be confirmed as a cause of RLN by functional genetics on patient-derived podocytes.
Authors with CRIS profile
Involved external institutions
Klinikum der Universität München (Großhadern und Innenstadt)
Germany (DE)
Università degli Studi di Firenze / University of Florence
Italy (IT)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Azienda Ospedaliera Universitaria Meyer
Italy (IT)
Germany (DE)
Università degli Studi di Firenze / University of Florence
Italy (IT)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Azienda Ospedaliera Universitaria Meyer
Italy (IT)
How to cite
APA:
Romagnani, P., Giglio, S., Angelotti, M.L., Provenzano, A., Becherucci, F., Mazzinghi, B.,... Anders, H.-J. (2016). Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis. Nephrology Dialysis Transplantation, 31(9), 1541-5. https://doi.org/10.1093/ndt/gfw234
MLA:
Romagnani, Paola, et al. "Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis." Nephrology Dialysis Transplantation 31.9 (2016): 1541-5.
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