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Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report

Arteriovenous 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 amon...

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Autores principales: Mukhtarova, Kymbat, Zholdybayeva, Elena, Kairov, Ulykbek, Akhmetollayev, Ilyas, Nurimanov, Chingiz, Kulmirzayev, Marat, Makhambetov, Yerbol, Ramankulov, Yerlan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601721/
https://www.ncbi.nlm.nih.gov/pubmed/36292575
http://dx.doi.org/10.3390/genes13101689
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author Mukhtarova, Kymbat
Zholdybayeva, Elena
Kairov, Ulykbek
Akhmetollayev, Ilyas
Nurimanov, Chingiz
Kulmirzayev, Marat
Makhambetov, Yerbol
Ramankulov, Yerlan
author_facet Mukhtarova, Kymbat
Zholdybayeva, Elena
Kairov, Ulykbek
Akhmetollayev, Ilyas
Nurimanov, Chingiz
Kulmirzayev, Marat
Makhambetov, Yerbol
Ramankulov, Yerlan
author_sort Mukhtarova, Kymbat
collection PubMed
description Arteriovenous 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.
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spelling pubmed-96017212022-10-27 Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report Mukhtarova, Kymbat Zholdybayeva, Elena Kairov, Ulykbek Akhmetollayev, Ilyas Nurimanov, Chingiz Kulmirzayev, Marat Makhambetov, Yerbol Ramankulov, Yerlan Genes (Basel) Case Report Arteriovenous 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. MDPI 2022-09-21 /pmc/articles/PMC9601721/ /pubmed/36292575 http://dx.doi.org/10.3390/genes13101689 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Mukhtarova, Kymbat
Zholdybayeva, Elena
Kairov, Ulykbek
Akhmetollayev, Ilyas
Nurimanov, Chingiz
Kulmirzayev, Marat
Makhambetov, Yerbol
Ramankulov, Yerlan
Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title_full Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title_fullStr Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title_full_unstemmed Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title_short Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report
title_sort whole-exome sequencing reveals pathogenic sirt1 variant in brain arteriovenous malformation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601721/
https://www.ncbi.nlm.nih.gov/pubmed/36292575
http://dx.doi.org/10.3390/genes13101689
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