Genetic and Molecular Basis for Hereditary Hemorrhagic Telangiectasia
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- 作者：Beth L. Roman ; David N. Finegold
- 关键词：Hereditary hemorrhagic telangiectasia ; Arteriovenous malformation ; Activin receptor ; like kinase 1 ; Endoglin ; Bone morphogenetic protein ; Angiogenesis
- 刊名：Current Genetic Medicine Reports
- 出版年：2015
- 出版时间：March 2015
- 年：2015
- 卷：3
- 期：1
- 页码：35-47
- 全文大小：466 KB
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David N. Finegold (1)
1. University of Pittsburgh Graduate School of Public Health, 130 DeSoto St., Pittsburgh, PA, 15261, USA - 刊物主题：Internal Medicine;
- 出版者：Springer US
- ISSN：2167-4876
文摘
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that predisposes patients to develop direct connections between arteries and veins, or arteriovenous malformations (AVMs). Although the genes responsible for the majority of HHT cases have been known for nearly 20?years, molecular and cellular mechanisms underlying pathogenesis are poorly understood, and the genetic and/or environmental factors that confer variability to age of onset and expressivity of HHT remain unknown. Herein, we review the genetics and genotype/phenotype correlations associated with HHT and summarize data from animal and cell culture models that lend insight into disease mechanism. At present, therapies available to HHT patients for treatment of visceral AVMs are primarily surgical, although antiangiogenic agents show some efficacy in treatment of telangiectasias, epistaxis, and liver AVMs. In light of new mechanistic data on disease pathogenesis, we consider possible approaches for development of more targeted therapeutics for HHT patients.