WHOLE-EXOME SEQUENCING REVEALS PATHOGENIC SIRT1 VARIANT IN BRAIN ARTERIOVENOUS MALFORMATION: A CASE REPORT

Simple item page
dc.contributor.authorMukhtarova, Kymbat
dc.contributor.authorZholdybayeva, Elena
dc.contributor.authorKairov, Ulykbek
dc.contributor.authorAkhmetollayev, Ilyas
dc.contributor.authorNurimanov, Chingiz
dc.contributor.authorKulmirzayev, Marat
dc.contributor.authorMakhambetov, Yerbol
dc.contributor.authorRamankulov, Yerlan
dc.date.accessioned2023-04-19T05:21:37Z
dc.date.available2023-04-19T05:21:37Z
dc.date.issued2022
dc.description.abstractArteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are especially high among children and young people. Recently, high-throughput genome sequencing methods have made a notable contribution to the research progress in this subject. In particular, whole-exome sequencing (WES) methods allow the identification of novel mutations. However, the genetic mechanism causing AVM is still unclear. Therefore, the aim of this study was to investigate the potential genetic mechanism underlying AVM.We analyzed the WES data of blood and tissue samples of a 30-year-old Central Asian male diagnosed with AVM. We identified 54 polymorphisms in 43 genes. After in-silica overrepresentation enrichment analysis of the polymorphisms, the SIRT1 gene variant (g.67884831C>T) indicated a possible molecular mechanism of bAVM. Further studies are required to evaluate the functional impact of SIRT1 g.67884831C>T, which may warrant further replication and biological investigations related to sporadic bAVM.en_US
dc.identifier.citationMukhtarova, K., Zholdybayeva, E., Kairov, U., Akhmetollayev, I., Nurimanov, C., Kulmirzayev, M., Bekmukhambetov, Y., & Ramankulov, Y. (2022). Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report. Genes, 13(10), 1689. https://doi.org/10.3390/genes13101689en_US
dc.identifier.urihttp://nur.nu.edu.kz/handle/123456789/7025
dc.language.isoenen_US
dc.publisherGenesen_US
dc.rightsAttribution-NonCommercial-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/3.0/us/*
dc.subjectType of access: Open Accessen_US
dc.subjectbrain arteriovenous malformationen_US
dc.subjectwhole exome sequencingen_US
dc.subjectcase studyen_US
dc.subjectSNPen_US
dc.subjectsomatic mutationsen_US
dc.titleWHOLE-EXOME SEQUENCING REVEALS PATHOGENIC SIRT1 VARIANT IN BRAIN ARTERIOVENOUS MALFORMATION: A CASE REPORTen_US
dc.typeArticleen_US
workflow.import.sourcescience

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
genes-13-01689.pdf
Size:
1.47 MB
Format:
Adobe Portable Document Format
Description:
article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
6.28 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Articles