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

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Abstract

Introduction

RNF213 mutations have been reported mostly in moyamoya disease (MMD) with varying frequencies across different ethnicities. However, its prevalence in non-MMD adult-onset ischemic stroke is still not well explored.

Aims and objectives

This present study thus aims to screen the most common RNF213 variant (Arg4810Lys, among East Asians) in the Eastern Indian non-MMD ischemic stroke patients and correlate it with long-term progression and prognosis of the patients. The subjects were analyzed for this variant using PCR-RFLP and confirmed using Sanger sequencing method.

Result and conclusion

We have identified Arg4810Lys variant among eleven young-onset familial ischemic stroke patients in heterozygous manner. A positive correlation of the variant with positive family history (P = 0.001), earlier age at onset (P = 0.002), and history of recurrent stroke (P = 0.015) was observed. However, the carriers showed better cognitive performances in memory (P = 0.042) and executive function (P = 0.004). Therefore, we can conclude that Arg4810Lys/RNF213 — a pathogenic variant for young-onset familial ischemic stroke with higher incidence of recurrent events unlike in MMD cases, have no additional impact on cognition among Eastern Indians.

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Data availability

The data described in this study are available from the corresponding author upon reasonable request.

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Acknowledgements

The authors thank the patient, family members, and healthy individuals who participated in the study.

Funding

This study was supported by grants from the Department of Science & Technology, Government of India, under Cognitive Science Research Initiative Programme DST/CSRI-PDF/2021/12 and DST/CSRI-P/2017/22.

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Authors and Affiliations

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

    Dipanwita Sadhukhan, Parama Mitra, Smriti Mishra, Arunima Roy, Tapas Kumar Banerjee & Arindam Biswas

  2. Institute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India

    Gargi Podder, Biman Kanti Ray & Atanu Biswas

  3. S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India

    Subhra Prakash Hui

Authors
  1. Dipanwita Sadhukhan
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  2. Parama Mitra
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  4. Arunima Roy
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  5. Gargi Podder
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  7. Atanu Biswas
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  9. Tapas Kumar Banerjee
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  10. Arindam Biswas
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Contributions

Dipanwita Sadhukhan and Arindam Biswas were responsible for the concept, study design, and manuscript preparation. Atanu Biswas, Biman Kanti Ray, Tapas Kumar Banerjee, and Gargi Podder were responsible for the diagnosis, recruitment, clinical evaluation, and blood collection for all study subjects. Parama Mitra, Smriti Mishra, and Arunima Roy were responsible for experimental work and manuscript preparation. Subhra Prakashu Hui was responsible for manuscript preparation. All authors read the draft, provided their inputs, and agreed on the final version of the manuscript.

Corresponding author

Correspondence to Arindam Biswas.

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Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee as well as the 1964 Helsinki Declaration and its later amendments.

Informed consent

Informed consent from all the participants was received prior to clinical data and sample collection.

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The authors declare no competing interests.

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Sadhukhan, ., Mitra, P., Mishra, S. et al. Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype–phenotype correlation. Neurol Sci 45, 315–319 (2024). https://doi.org/10.1007/s10072-023-07051-w

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  • DOI: https://doi.org/10.1007/s10072-023-07051-w

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