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Zhu et al. Neuroimmunol Neuroinflammation 2017;4:199-210 Neuroimmunology and
DOI: 10.20517/2347-8659.2017.18
Neuroinflammation

www.nnjournal.net
Topic: Stroke Open Access

The roles of endoglin gene in cerebrovascular

diseases

Wan Zhu *, Li Ma *, Rui Zhang , Hua Su 1
1,2
1
1
1 Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, CA 94143, USA.
2 Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China.
*These authors contributed equally to this work.
Correspondence to: Dr. Hua Su, Department of Anesthesia and Perioperative Care, University of California, San Francisco, 1001 Potrero Avenue,
Box 1363, San Francisco, CA 94143, USA. E-mail: hua.su@ucsf.edu

How to cite this article: Zhu W, Ma L, Zhang R, Su H. The roles of endoglin gene in cerebrovascular diseases. Neuroimmunol Neuroinflammation
2017;4:199-210.

Hua Su, MD, is Professor and the Associate Director of Basic Science Research at the Center for Cerebrovascular
Research, Department of Anesthesia and Perioperative Care at the University of California, San Francisco, CA,
USA. She is an experienced vascular biologist and is an author of more than 100 peer-reviewed publications.
Her long-term research interest is to develop therapeutic strategies that can improve outcomes in patients with
cerebral vascular disease.

ABSTRACT
Article history: Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated
Received: 2 Apr 2017 receptor and is required for both vasculogenesis and angiogenesis. Angiogenesis is important
Accepted: 26 Jul 2017 in the development of cerebral vasculature and in the pathogenesis of cerebral vascular
Published: 17 Oct 2017 diseases. ENG is an essential component of the endothelial nitric oxide synthase activation
complex. Animal studies showed that ENG deficiency impairs stroke recovery. ENG deficiency
Key words:
Endoglin, also impairs the regulation of vascular tone, which contributes to the pathogenesis of brain
cerebrovascular disease, arteriovenous malformation (bAVM) and vasospasm. In human, functional haploinsufficiency
stroke, of ENG gene causes type I hereditary hemorrhagic telangiectasia (HHT1), an autosomal
angiogenesis dominant disorder. Compared to normal population, HHT1 patients have a higher prevalence
of AVM in multiple organs including the brain. Vessels in bAVM are fragile and tend to
rupture, causing hemorrhagic stroke. High prevalence of pulmonary AVM in HHT1 patients
are associated with a higher incidence of paradoxical embolism in the cerebral circulation
causing ischemic brain injury. Therefore, HHT1 patients are at risk for both hemorrhagic and
ischemic stroke. This review summarizes the possible mechanism of ENG in the pathogenesis
of cerebrovascular diseases in experimental animal models and in patients.

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