Diabetologie und Stoffwechsel 2017; 12(S 01): S1-S84
DOI: 10.1055/s-0037-1601606
Vorträge
Kurzvorträge 2: Komplikationen
Georg Thieme Verlag KG Stuttgart · New York

Anks6(p.R823W) overexpression in kidney affects retinal degeneration

J Lin
1   5th Medical Department, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
J Wang
1   5th Medical Department, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
A Schlotterer
1   5th Medical Department, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
N Dietrich
1   5th Medical Department, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
Y Feng
2   Institute of Experimental and Clinical Pharmacology and Toxicology, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
B Kraenzlin
3   Medical Research Center, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
N Gretz
3   Medical Research Center, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
S Hoffmann
3   Medical Research Center, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
,
HP Hammes
1   5th Medical Department, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
05 May 2017 (online)

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Background:

Eye disorders are associated with chronic kidney disease, so called renal-retinal syndrome. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. ADPKD not only affects the renal function, but is also involved in the retinal vasoregression and neurodegeneration. Anks6 gene consists of 2655 bp coding for an 885-amino acid protein. Recently it has been shown that overexpression of Anks6 harbouring a missense mutation in the SAM domain in transgenic rats [TGR CMV-Anks6 (p.R823W)] causes polycystic kidney disease. The expression level of Anks6 (p.R823W) is tightly linked to the severity of the cystic phenotype. However, it is unclear if Anks6(p.R823W) overexpression links to retinal vascular and neuronal degeneration. Therefore, we use the TGR CMV-Anks6 (p.R823W) and study the retinal degeneration.

Materials and methods:

Anks6 (p.R823W) transgenic rats (TGR) and age matched wild type (WT) rats were used for this study. Expression of Anks6 (p.R823W) was evaluated by semi-quantitative PCR. Glial activation was measured by immunofluorescence staining. For neurodegeneration, 3 µm-paraffin sections were stained with periodic acid-Schiff (PAS) and haematoxilin and quantified. Retinal thickness and number of neuronal nuclei were measured using Olympus microscope with CellF software. Retinal morphometry was assessed using digestion preparations.

Results:

Transgenic Anks6 (p.R823W) was mainly expressed in the kidney. Retinal vasoregression companied with occasional vascular fibrosis in Anks6 (p.R823W) TGRs. Retinal neurodegeneration showed mainly in ganglion cells, inner nuclear and outer nuclear layer, but not in photoreceptor layer.

Conclusion:

Anks6 (p.R823W) overexpression in the kidney induces retinal vasoregression and occasional vascular fibrosis as well as neurodegeneration.