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NDT Advance Access originally published online on August 1, 2007
Nephrology Dialysis Transplantation 2007 22(12):3501-3507; doi:10.1093/ndt/gfm481
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org


Type VII collagen in Alport syndrome

Konstantinos Giannakakis1, Laura Massella2, Daniele Grassetti3, Francesco Dotta4, Marie Perez5 and Andrea Onetti Muda1

1Department of Experimental Medicine, ‘La Sapienza’ University, 2Department of Nephrology, Bambino Gesù Pediatric Hospital-IRCCS, 3Department of Medical Sciences, ‘La Sapienza’ University, Rome, 4Department of Internal Medicine, University of Siena and 5IDI-IRCCS, Rome, Italy

Correspondence to: Andrea Onetti-Muda, MD, La Sapienza University, Department of Experimental Medicine, Viale Regina Elena, 324, 00161 Rome Italy. Email: andrea.onettimuda{at}uniroma1.it



  Abstract

Background. Absence or segmental distribution of the {alpha}5(IV) collagen chain along the epidermal basement membrane (EBM) is diagnostic of X-linked Alport syndrome (X-AS), but the typical morphologic alterations usually observed along the glomerular basement membrane (GBM) are lacking. However, several differences in protein composition exist between GBM and EBM, and such differences could account for a different phenotype with the same genetic defect. Type VII collagen is one of the major collagenous components of the EBM; the purpose of this study was to investigate the modifications of protein synthesis and expression of type VII collagen in the skin of patients with X-AS.

Methods. The distribution of type VII collagen has been studied in 15 skin biopsies (10 from X-AS patients and 5 controls) by means of electron microscopy, immunofluorescence and confocal microscopy; type VII collagen mRNA expression was also measured by RT-PCR on the same skin fragments.

Results. Protein and mRNA amounts for type VII collagen were significantly higher in skin samples from X-AS patients than in controls (P < 0.001); highest values were in cases in which {alpha}5(IV) was completely absent.

Conclusions. Our results indicate that lack of {alpha}5(IV) molecule significantly alters the assembly of extracellular matrix molecules other than {alpha}x(IV) chains also at the EBM level. We suggest that the increased synthesis and deposition of type VII collagen is likely to balance the absence of stabilizing activity normally exerted by {alpha}5(IV).

Keywords: Alport syndrome; confocal microscopy; dermoepidermal junction; RNA analysis; type VII collagen

Received for publication: 16.12.06
Accepted in revised form: 25. 6.07


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