Hereditary Hemorrhagic Telangiectasia and its Animal Model

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  • Satomi Junichiro
    Department of Neurosurgery, School of Medicine, The University of Tokushima
  • Nagahiro Shinji
    Department of Neurosurgery, School of Medicine, The University of Tokushima

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Other Title
  • 遺伝性出血性毛細血管拡張症と動物モデル(第24回日本脳神経外科コングレス「脳動静脈奇形の基礎と臨床」発表演題)

Description

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant vascular dysplasia characterized by dilated vessels and arteriovenous malformations (AVMs). Five to 10% of cerebral AVMs observed in general population are associated with this disease. Two genes, endoglin and activin receptor-like kinase 1, are associated with HHT. To understand the etiology of this disorder, we evaluated the cerebral vasculature of endoglin heterozygous (Eng^<+/->) mice using vascular corrosion cast technique. Eng^<+/-> mice showed significant structural alterations in cerebral blood vessels, indicating that the level of endoglin on endothelium is critical for maintenance of normal vasculature. In this article, we would give an outline of current concepts of HHT and introduce the data obtained from its animal models.

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