Dysregulation of RNF213 promotes cerebral hypoperfusion

Sci Rep. 2018 Feb 26;8(1):3607. doi: 10.1038/s41598-018-22064-8.

Abstract

RNF213 is a susceptibility gene for moyamoya disease, yet its exact functions remain unclear. To evaluate the role of RNF213 in adaptation of cerebral blood flow (CBF) under cerebral hypoperfusion, we performed bilateral common carotid artery stenosis surgery using external microcoils on Rnf213 knockout (KO) and vascular endothelial cell-specific Rnf213 mutant (human p.R4810K orthologue) transgenic (EC-Tg) mice. Temporal CBF changes were measured by arterial spin-labelling magnetic resonance imaging. In the cortical area, no significant difference in CBF was found before surgery between the genotypes. Three of eight (37.5%) KO mice died after surgery but all wild-type and EC-Tg mice survived hypoperfusion. KO mice had a significantly more severe reduction in CBF on day 7 than wild-type mice (KO, 29.7% of baseline level; wild-type, 49.3%; p = 0.038), while CBF restoration on day 28 was significantly impaired in both KO (50.0%) and EC-Tg (56.1%) mice compared with wild-type mice (69.5%; p = 0.031 and 0.037, respectively). Changes in the subcortical area also showed the same tendency as the cortical area. Additionally, histological analysis demonstrated that angiogenesis was impaired in both EC-Tg and KO mice. These results are indicative of the essential role of RNF213 in the maintenance of CBF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism*
  • Animals
  • Cerebral Cortex
  • Cerebrovascular Circulation / genetics
  • Cerebrovascular Circulation / physiology
  • Cerebrovascular Disorders / genetics
  • Cerebrovascular Disorders / metabolism*
  • Cerebrovascular Disorders / physiopathology
  • Exons / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Glucose Transporter Type 1 / genetics
  • Glucose Transporter Type 1 / metabolism
  • Humans
  • Kaplan-Meier Estimate
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • Glucose Transporter Type 1
  • RNF213 protein, mouse
  • Ubiquitin-Protein Ligases
  • Adenosine Triphosphatases