Myeloid lineage cells evince distinct steady-state level of
certain gene groups in dependence on hereditary angioedema
severity

J 2023

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity

BALLONOVÁ, Lucie; Přemysl SOUČEK; Peter SLANINA; Kamila RÉBLOVÁ; Ondřej ZAPLETAL et. al.

Základní údaje

Originální název

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity

Autoři

Vydání

FRONTIERS IN GENETICS, LAUSANNE, FRONTIERS MEDIA SA, 2023, 1664-8021

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.800

Kód RIV

RIV/00216224:14110/23:00131293

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.3389/fgene.2023.1123914

UT WoS

001034532700001

EID Scopus

2-s2.0-85165122860

Klíčová slova anglicky

FXII; hereditary angioedema; immune cell; interferon-gamma; gene expression

Štítky

14110114, 14314010, CF GEN, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 15. 10. 2024 15:06, Ing. Martina Blahová

Anotace

V originále

Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in carriers of the same underlying genetic defect, suggesting other genetic and epigenetic factors participate in modifying HAE severity. Recent knowledge indicates the role of immune cells in several aspects of HAE pathogenesis, which makes monocytes and macrophages candidates to mediate these effects. Here we combined a search for HAE phenotype modifying gene variants with the characterization of selected genes’ mRNA levels in monocyte and macrophages in a symptom-free period. While no such gene variant was found to be associated with a more severe or milder disease, patients revealed a higher number of dysregulated genes and their expression profile was significantly altered, which was typically manifested by changes in individual gene expression or by strengthened or weakened relations in mutually co-expressed gene groups, depending on HAE severity. SERPING1 showed decreased expression in HAE-C1INH patients, but this effect was significant only in patients carrying mutations supposedly activating nonsense-mediated decay. Pro-inflammatory CXC chemokine superfamily members CXCL8, 10 and 11 were downregulated, while other genes such as FCGR1A, or long non-coding RNA NEAT1 were upregulated in patients. Co-expression within some gene groups (such as an NF-kappaB function related group) was strengthened in patients with a severe and/or mild course compared to controls. All these findings show that transcript levels in myeloid cells achieve different activation or depression levels in HAE-C1INH patients than in healthy controls and/or based on disease severity and could participate in determining the HAE phenotype.

Návaznosti

MUNI/A/1098/2022, interní kód MU

Název: Nespecifická imunita u chorob imunitního systému

Investor: Masarykova univerzita, Nespecifická imunita u chorob imunitního systému

MUNI/A/1244/2021, interní kód MU

Název: Vrozená imunita a její abnormality v rozvoji imunopatologických stavů

Investor: Masarykova univerzita, Vrozená imunita a její abnormality v rozvoji imunopatologických stavů

NV18-05-00330, projekt VaV

Název: Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem

Investor: Ministerstvo zdravotnictví ČR, Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem

90132, velká výzkumná infrastruktura

Název: NCMG II

Citovat

BALLONOVÁ, Lucie; Přemysl SOUČEK; Peter SLANINA; Kamila RÉBLOVÁ; Ondřej ZAPLETAL; Marcela VLKOVÁ; Roman HAKL; Viktor BÍLY; Hana GROMBIŘÍKOVÁ; Eliška SVOBODOVÁ; Petra KULÍŠKOVÁ; Julie ŠTÍCHOVÁ; Marta SOBOTKOVÁ; Zachová RADANA; Jana HANZLÍKOVÁ; Martina VACHOVÁ; Pavlína KRÁLÍČKOVÁ; Irena KRČMOVÁ; Miloš JESEŇÁK a Tomáš FREIBERGER. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. FRONTIERS IN GENETICS. LAUSANNE: FRONTIERS MEDIA SA, 2023, roč. 14, July 2023, s. 1-15. ISSN 1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2023.1123914.

@article{2298959,
   author = {Ballonová, Lucie and Souček, Přemysl and Slanina, Peter and Réblová, Kamila and Zapletal, Ondřej and Vlková, Marcela and Hakl, Roman and Bíly, Viktor and Grombiříková, Hana and Svobodová, Eliška and Kulíšková, Petra and Štíchová, Julie and Sobotková, Marta and Radana, Zachová and Hanzlíková, Jana and Vachová, Martina and Králíčková, Pavlína and Krčmová, Irena and Jeseňák, Miloš and Freiberger, Tomáš},
   article_location = {LAUSANNE},
   article_number = {July 2023},
   doi = {https://doi.org/10.3389/fgene.2023.1123914},
   keywords = {FXII; hereditary angioedema; immune cell; interferon-gamma; gene expression},
   language = {eng},
   issn = {1664-8021},
   journal = {FRONTIERS IN GENETICS},
   title = {Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity},
   url = {https://www.frontiersin.org/articles/10.3389/fgene.2023.1123914/full},
   volume = {14},
   year = {2023}
}

TY  - JOUR
ID  - 2298959
AU  - Ballonová, Lucie - Souček, Přemysl - Slanina, Peter - Réblová, Kamila - Zapletal, Ondřej - Vlková, Marcela - Hakl, Roman - Bíly, Viktor - Grombiříková, Hana - Svobodová, Eliška - Kulíšková, Petra - Štíchová, Julie - Sobotková, Marta - Radana, Zachová - Hanzlíková, Jana - Vachová, Martina - Králíčková, Pavlína - Krčmová, Irena - Jeseňák, Miloš - Freiberger, Tomáš
PY  - 2023
TI  - Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity
JF  - FRONTIERS IN GENETICS
VL  - 14
IS  - July 2023
SP  - 1-15
EP  - 1-15
PB  - FRONTIERS MEDIA SA
SN  - 16648021
KW  - FXII
KW  - hereditary angioedema
KW  - immune cell
KW  - interferon-gamma
KW  - gene expression
UR  - https://www.frontiersin.org/articles/10.3389/fgene.2023.1123914/full
N2  - Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in carriers of the same underlying genetic defect, suggesting other genetic and epigenetic factors participate in modifying HAE severity. Recent knowledge indicates the role of immune cells in several aspects of HAE pathogenesis, which makes monocytes and macrophages candidates to mediate these effects. Here we combined a search for HAE phenotype modifying gene variants with the characterization of selected genes’ mRNA levels in monocyte and macrophages in a symptom-free period. While no such gene variant was found to be associated with a more severe or milder disease, patients revealed a higher number of dysregulated genes and their expression profile was significantly altered, which was typically manifested by changes in individual gene expression or by strengthened or weakened relations in mutually co-expressed gene groups, depending on HAE severity. SERPING1 showed decreased expression in HAE-C1INH patients, but this effect was significant only in patients carrying mutations supposedly activating nonsense-mediated decay. Pro-inflammatory CXC chemokine superfamily members CXCL8, 10 and 11 were downregulated, while other genes such as FCGR1A, or long non-coding RNA NEAT1 were upregulated in patients. Co-expression within some gene groups (such as an NF-kappaB function related group) was strengthened in patients with a severe and/or mild course compared to controls. All these findings show that transcript levels in myeloid cells achieve different activation or depression levels in HAE-C1INH patients than in healthy controls and/or based on disease severity and could participate in determining the HAE phenotype.
ER  -

BALLONOVÁ, Lucie; Přemysl SOUČEK; Peter SLANINA; Kamila RÉBLOVÁ; Ondřej ZAPLETAL; Marcela VLKOVÁ; Roman HAKL; Viktor BÍLY; Hana GROMBIŘÍKOVÁ; Eliška SVOBODOVÁ; Petra KULÍŠKOVÁ; Julie ŠTÍCHOVÁ; Marta SOBOTKOVÁ; Zachová RADANA; Jana HANZLÍKOVÁ; Martina VACHOVÁ; Pavlína KRÁLÍČKOVÁ; Irena KRČMOVÁ; Miloš JESEŇÁK a Tomáš FREIBERGER. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. \textit{FRONTIERS IN GENETICS}. LAUSANNE: FRONTIERS MEDIA SA, 2023, roč.~14, July 2023, s.~1-15. ISSN~1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2023.1123914.

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