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Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality

Lookup NU author(s): Evelyn Torsney, Dr Richard Charlton, Professor Sir John BurnORCiD, Emerita Professor Helen ArthurORCiD

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Abstract

Background - Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-β signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variable phenotype in hereditary hemorrhagic telangiectasia are not understood. Methods and Results - After a detailed immunohistochemical analysis of 129/Ola mice, which are heterozygous for a targeted deletion in the endoglin gene, we observed intrinsic abnormalities in the vascular walls throughout the cutaneous vasculature. Postcapillary venules were dilated, and up to 70% of the vascular wall had no smooth muscle cells. The supporting layers of collagens and elastin were irregular, with thin areas, adding to the fragility of these vessels. A variable hemorrhagic phenotype was observed in which local bleeding is associated not only with fragile vessels but also with regions of inflammation. Conclusions - These findings have relevance to our understanding of the molecular basis of vascular integrity in a wide range of diseases.

Publication metadata

Author(s): Torsney E, Charlton R, Diamond AG, Burn J, Soames JV, Arthur HM

Publication type: Article

Publication status: Published

Journal: Circulation

Year: 2003

Volume: 107

Issue: 12

Pages: 1653-1657

ISSN (print): 0009-7322

ISSN (electronic): 1524-4539

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1161/01.CIR.0000058170.92267.00

DOI: 10.1161/01.CIR.0000058170.92267.00

PubMed id: 12668501

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