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Sample Preparation for Metabolic Profiling using MALDI Mass Spectrometry Imaging
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MALDI imaging in Fabry nephropathy: a multicenter study.

Vincenzo L'Imperio1, Andrew Smith2, Antonio Pisani3

  • 1Department of Medicine and Surgery, Pathology, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.

Journal of Nephrology
|July 12, 2019
PubMed
Summary
This summary is machine-generated.

Histology combined with MALDI-MSI analysis of Fabry nephropathy (FN) renal biopsies offers new insights. This approach aids in classifying FN subtypes and identifying specific proteomic signatures for better patient stratification.

Keywords:
Fabry nephropathyMALDI imagingProteomicsRenal biopsy

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Area of Science:

  • Nephrology
  • Proteomics
  • Biomarker Discovery

Background:

  • Fabry nephropathy (FN) is a rare genetic disorder affecting the kidneys.
  • Histology is a standard diagnostic tool, but further classification methods are needed.
  • In situ proteomics using MALDI-MSI offers a novel approach to analyze FN biopsies.

Purpose of the Study:

  • To evaluate the combined application of histology and MALDI-MSI in Fabry nephropathy.
  • To investigate the investigative and classification role of this coupled approach in FN.
  • To identify proteomic signatures for phenotypic and genetic classification of FN.

Main Methods:

  • Retrospective analysis of 14 formalin-fixed, paraffin-embedded (FFPE) renal biopsies from FN patients.
  • Classification of biopsies based on clinical characteristics and histological differences using the ISGFN scoring system.
  • Analysis of renal biopsies using MALDI-MSI to identify proteomic signatures.

Main Results:

  • Females with FN showed significantly lower mean 24-hour proteinuria and arterial sclerosis compared to males.
  • MALDI-MSI analysis revealed distinct proteomic signatures in different FN subgroups.
  • The MALDI-MSI approach successfully classified cases with undetermined mutations or genetic variants of unknown significance (GVUS).

Conclusions:

  • MALDI-MSI is a feasible technique for analyzing FN FFPE renal biopsies.
  • This method can detect specific proteomic signatures for phenotypic distinctions in FN.
  • MALDI-MSI demonstrates capabilities for genetic classification of Fabry nephropathy.