ANALYSIS OF SOMATIC KRAS MUTATIONS IN PATIENTS DIAGNOSED WITH ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
Introduction. Cerebral arteriovenous malformations (AVMs) consist of abnormal tangles of dilated vascular structure that connect arteries and veins directly without intermediate capillary layers. Most cerebral AVMs are presumably sporadic; however, rare familial cases occur. Brain AVMs pose a high risk of intracranial hemorrhages, which are significant causes of morbidity and mortality from AVMs, especially in children and young adults. The pathogenesis of the sporadic form of AVM remains poorly understood to this day. Objective: Detection of Kirsten rat sarcoma (KRAS) mutations in brain AMB tissues using digital PCR. Materials and methods: Genomic DNA was isolated from tissue samples using a commercial DNeasy Blood & Tissue Kit, Qiagen according to the manufacturer's instructions. The DNA concentration was measured on a Qubit2 fluorimeter. KRAS mutation detection was performed using a commercial PrimePCR™ ddPCR™ Mutation Detection Assay Kit, Bio-Rad on a QX200 Droplet Digital PCR System, Bio-Rad. QuantaSoftTM Analysis Software (Bio-Rad) was used to interpret the results. Results: KRAS gene mutations were screened in tissues from patients with cerebral AVMs (n=8) by digital droplet PCR. An activating mutation in the KRAS gene was detected in one of the eight samples examined (12.5%). Conclusion: The presence of the mutation supports the possibility of a causal role of somatic mutations with the formation of AVMs of the brain.
Elena V. Zholdybayeva1, https://orcid.org/0000-0002-9677-008X Kymbat E. Mukhtarova1, Kuat T. Kassymbek1, Chingis S. Nurimanov2, Marat A. Kulmirzayev2 1 National Biotechnology Center of the Ministry of Health of the Republic of Kazakhstan, Nur-Sultan city, Republic of Kazakhstan; 2 National Center for Neurosurgery, Nur-Sultan city, Republic of Kazakhstan.
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Zholdybayeva E.V., Mukhtarova K.E., Kassymbek K.T., Nurimanov Ch.S., Kulmirzayev M.A. Analysis of somatic KRAS mutations in patients diagnosed with arteriovenous malformations of the brain // Nauka i Zdravookhranenie [Science & Healthcare]. 2022, (Vol.24) 3, pp. 141-146. doi 10.34689/SH.2022.24.3.017

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