J 2023

PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

BALLONOVÁ, Lucie, Petra KULÍŠKOVÁ, Peter SLANINA, Julie ŠTÍCHOVÁ, Marcela VLKOVÁ et. al.

Basic information

Original name

PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

Authors

BALLONOVÁ, Lucie (203 Czech Republic, belonging to the institution), Petra KULÍŠKOVÁ (203 Czech Republic, belonging to the institution), Peter SLANINA (703 Slovakia, belonging to the institution), Julie ŠTÍCHOVÁ (203 Czech Republic, belonging to the institution), Marcela VLKOVÁ (203 Czech Republic, belonging to the institution), Roman HAKL (203 Czech Republic, belonging to the institution), Jiří LITZMAN (203 Czech Republic, belonging to the institution), Přemysl SOUČEK (203 Czech Republic, guarantor, belonging to the institution) and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution)

Edition

Molecular Biology Reports, DORDRECHT, Springer, 2023, 0301-4851

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30101 Human genetics

Country of publisher

Netherlands

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 2.800 in 2022

RIV identification code

RIV/00216224:14110/23:00131130

Organization unit

Faculty of Medicine

DOI

UT WoS

000976266200003

Keywords in English

PLAUR; uPAR; HAE; Differentiation; Monocyte; Macrophages

Tags

Tags

International impact, Reviewed
Změněno: 23/2/2024 12:38, Mgr. Tereza Miškechová

Abstract

V originále

BackgroundThe PLAUR gene encodes the urokinase-like plasminogen activator receptor (uPAR) and may undergo alternative splicing. Excluding cassette exons 3, 5 and 6 from the transcript results in truncated protein variants whose precise functions have not been elucidated yet. The PLAUR gene is one of several expressed in myeloid cells, where uPAR participates in different cellular processes, including the contact activation system and kallikrein-kinin system, which play an important role in hereditary angioedema (HAE) pathogenesis. A hypothesis about the PLAUR splicing pattern impact on HAE severity was tested.Methods and resultsThe RT-PCR quantified by capillary electrophoresis was used. Although no significant difference in alternative transcript frequency was observed between healthy volunteers and HAE patients, a significant increase in all cassette exon inclusion variants was revealed during monocyte-to-macrophage differentiation.ConclusionsPLAUR alternative splicing in monocytes and macrophages neither was different between HAE patients and healthy controls, nor reflected disease severity. However, the results showed an PLAUR splicing pattern was changing during monocyte-to-macrophage differentiation, but the significance of these changes is unknown and awaits future clarification.

Links

MUNI/A/1098/2022, interní kód MU
Name: Nespecifická imunita u chorob imunitního systému
Investor: Masaryk University, Non-specific immunity in immune system diseases
MUNI/A/1244/2021, interní kód MU
Name: Vrozená imunita a její abnormality v rozvoji imunopatologických stavů
Investor: Masaryk University
NU21-05-00438, research and development project
Name: Úloha alternativních forem uPAR v rozvoji imunopatologických reakcí
Investor: Ministry of Health of the CR, Subprogram 1 - standard
NV18-05-00330, research and development project
Name: Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem
Investor: Ministry of Health of the CR, Genetic determination of bradykinin-mediated angioedema severity in patients with hereditary angioedema