Proteomics

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Podocyte injury in Fabry nephropathy

ABSTRACT: Current therapies for Fabry disease are based on reversing intra-cellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement (ERT) or chaperone mediated stabilization, thereby alleviating lysosome dysfunction. However, the therapeutic effect in the regression of end-organ damage (ie. kidney damage) is limited. Ultrastructural analysis of serial human kidney biopsies showed that long-term use of ERT reduced Gb3 accumulation in podocytes but did not alter podocyte injury. A novel CRISPR-/CAS9-mediated -Galactosidase knockout podocyte cell line confirmed ERT-mediated reversal of Gb3 accumulation without resolution of lysosomal dysfunction. Transcriptomic-based connectivity mapping and SILAC-based quantitative proteomics identified alpha-synuclein (SNCA) accumulation as a key event mediating podocyte injury.

INSTRUMENT(S): LTQ Orbitrap XL

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Podocyte (sensu Diptera), Cell Culture

DISEASE(S): Fabry Disease

SUBMITTER: Nicola Wanner  

LAB HEAD: Nicola Wanner

PROVIDER: PXD029618 | Pride | 2023-07-20

REPOSITORIES: Pride

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20150810_VD_CFP867_sample_1_01.RAW Raw
20150810_VD_CFP867_sample_1_02.RAW Raw
20150810_VD_CFP867_sample_1_03.RAW Raw
20150810_VD_CFP867_sample_1_04.RAW Raw
20150810_VD_CFP867_sample_1_05.RAW Raw
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Publications

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.

Braun Fabian F   Abed Ahmed A   Sellung Dominik D   Rogg Manuel M   Woidy Mathias M   Eikrem Oysten O   Wanner Nicola N   Gambardella Jessica J   Laufer Sandra D SD   Haas Fabian F   Wong Milagros N MN   Dumoulin Bernhard B   Rischke Paula P   Mühlig Anne A   Sachs Wiebke W   von Cossel Katharina K   Schulz Kristina K   Muschol Nicole N   Gersting Sören W SW   Muntau Ania C AC   Kretz Oliver O   Hahn Oliver O   Rinschen Markus M MM   Mauer Michael M   Bork Tillmann T   Grahammer Florian F   Liang Wei W   Eierhoff Thorsten T   Römer Winfried W   Hansen Arne A   Meyer-Schwesinger Catherine C   Iaccarino Guido G   Tøndel Camilla C   Marti Hans-Peter HP   Najafian Behzad B   Puelles Victor G VG   Schell Christoph C   Huber Tobias B TB  

The Journal of clinical investigation 20230601 11

Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby alleviating lysosomal dysfunction. However, their effect in the reversal of end-organ damage, like kidney injury and chronic kidney disease, remains unclear. In this study, ultrastructural analysis of serial human kidney biopsies showed that long-term use of ERT reduced Gb3 acc  ...[more]

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