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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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RNF213 Polymorphisms in Intracranial Artery Dissection.

Marialuisa Zedde1, Ilaria Grisendi1, Federica Assenza1

  • 1Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.

Genes
|June 27, 2024
PubMed
Summary

RNF213 gene variants are linked to spontaneous intracranial artery dissections in Asian populations. These variants, particularly p.Arg4810Lys, were found in over 18% of patients, highlighting a potential genetic risk factor.

Keywords:
RNF213atherosclerosisintracranial artery dissectionintracranial stenosismagnetic resonance angiographymoyamoya disease

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Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • The ring finger protein 213 (RNF213) gene is implicated in various vascular diseases.
  • Specific RNF213 variants are prevalent in Asian populations and associated with moyamoya disease, intracranial stenosis, and aneurysms.
  • Moyamoya disease and intracranial artery dissection disproportionately affect Asian individuals.

Purpose of the Study:

  • To systematically review the literature and determine the frequency of RNF213 variants in patients diagnosed with spontaneous intracranial artery dissection.
  • To investigate the potential association between RNF213 gene variants and the risk of intracranial artery dissection, particularly in Asian cohorts.

Main Methods:

  • A systematic literature review was conducted.
  • Four studies comprising data on 53 patients with intracranial artery dissection were identified and analyzed.
  • The prevalence of RNF213 variants was calculated, with specific attention to patient ethnicity and dissection location.

Main Results:

  • RNF213 variants were identified in 10 out of 53 patients (18.9%) with intracranial artery dissection.
  • Excluding vertebral artery dissections, the rate increased to 10 out of 29 patients (34.5%).
  • The RNF213 p.Arg4810Lys variant was present in all affected patients.

Conclusions:

  • RNF213 variants appear to play a role in spontaneous intracranial artery dissections within Asian populations.
  • The p.Arg4810Lys variant is strongly associated with this condition in the studied cohorts.
  • Limitations include small sample size, exclusive focus on Asian descent, and potential overlap with moyamoya disease, necessitating further research.