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. 2024 Jan;45(1):315-319.
doi: 10.1007/s10072-023-07051-w. Epub 2023 Sep 12.

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

Dipanwita Sadhukhan  1 , Parama Mitra  1 , Smriti Mishra  1 , Arunima Roy  1 , Gargi Podder  2 , Biman Kanti Ray  2 , Atanu Biswas  2 , Subhra Prakash Hui  3 , Tapas Kumar Banerjee  1 , Arindam Biswas  4
Affiliations

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

Dipanwita Sadhukhan et al. Neurol Sci. 2024 Jan.

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.

Keywords: Indians; Ischemic stroke; Mutations; RNF213; p.Arg4810Lys.

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References

    1. Hofmeijer J, van Putten MJ (2012) Ischemic cerebral damage: an appraisal of synaptic failure. Stroke 43(2):607–615. https://doi.org/10.1161/STROKEAHA.111.632943 - DOI - PubMed
    1. Qin C, Yang S, Chu YH, Zhang H, Pang XW, Chen L, Zhou LQ, Chen M, Tian DS, Wang W (2022) Signaling pathways involved in ischemic stroke: molecular mechanisms and therapeutic interventions. Signal Transduct Target Ther 7(1):215. https://doi.org/10.1038/s41392-022-01064-1 - DOI - PubMed - PMC
    1. Einstad MS, Saltvedt I, Lydersen S, Ursin MH, Munthe-Kaas R, Ihle-Hansen H, Knapskog AB, Askim T, Beyer MK, Næss H, Seljeseth YM, Ellekjær H, Thingstad P (2021) Associations between post-stroke motor and cognitive function: a cross-sectional study. BMC Geriatr 21(1):103. https://doi.org/10.1186/s12877-021-02055-7 - DOI - PubMed - PMC
    1. Boehme AK, Esenwa C, Elkind MS (2017) Stroke risk factors, genetics, and prevention. Circ Res 120(3):472–495. https://doi.org/10.1161/CIRCRESAHA.116.308398 - DOI - PubMed - PMC
    1. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S (2011) A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56(1):34–40. https://doi.org/10.1038/jhg.2010.132 - DOI - PubMed

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