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Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype

Dipanwita Sadhukhan1, Parama Mitra1, Smriti Mishra1

  • 1Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|September 12, 2023
PubMed
Summary

The RNF213 Arg4810Lys variant is linked to young-onset familial ischemic stroke in Eastern Indians, increasing recurrence risk but not impacting cognition. This finding differs from moyamoya disease associations.

Keywords:
IndiansIschemic strokeMutationsRNF213p.Arg4810Lys

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • RNF213 mutations are primarily associated with moyamoya disease (MMD).
  • The prevalence of RNF213 variants in non-MMD adult-onset ischemic stroke remains under-explored, particularly in diverse ethnic groups.
  • Understanding RNF213's role in different stroke types is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the frequency of the common RNF213 Arg4810Lys variant in Eastern Indian patients with non-MMD ischemic stroke.
  • To correlate the presence of this variant with the long-term progression and prognosis of ischemic stroke.
  • To assess the impact of the RNF213 variant on cognitive functions in affected individuals.

Main Methods:

  • Screening of the RNF213 Arg4810Lys variant using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
  • Confirmation of the variant through Sanger sequencing.
  • Correlation analysis of variant presence with clinical data including family history, age of onset, stroke recurrence, and cognitive assessments.

Main Results:

  • The Arg4810Lys variant was identified in eleven patients with young-onset familial ischemic stroke, all in a heterozygous state.
  • A significant positive correlation was observed between the variant and a positive family history (P = 0.001), earlier age of onset (P = 0.002), and recurrent stroke events (P = 0.015).
  • Interestingly, variant carriers demonstrated better cognitive performance in memory (P = 0.042) and executive function (P = 0.004).

Conclusions:

  • The RNF213 Arg4810Lys variant is a pathogenic factor in young-onset familial ischemic stroke among Eastern Indians, associated with increased recurrence.
  • Unlike in moyamoya disease, this variant does not appear to negatively impact cognitive functions in this patient cohort.
  • The findings highlight ethnic and disease-specific differences in the clinical implications of RNF213 variants in stroke.