Functional analysis of PCSK9 3'UTR variants and mRNAmiRNA interactions in patients with familial hypercholesterolemia
Epigenomics (Online)
; 13(10): 779-791, May., 2021.
Article
em En
| SES-SP, CONASS, SESSP-IDPCPROD, SES-SP
| ID: biblio-1247328
Biblioteca responsável:
BR79.1
ABSTRACT
AIM:
functional analysis of pcsk9 3'utr variants and mrna-mirna interactions were explored in patients with familial hypercholesterolemia (fh). MATERIALS &METHODS:
PCSK9 3'UTR variants were identified by exon-targeted gene sequencing. Functional effects of 3'UTR variants and mRNA-miRNA interactions were analyzed using in silico and in vitro studies in HEK293FT and HepG2 cells.RESULTS:
Twelve PCSK9 3'UTR variants were detected in 88 FH patients. c.*75C >T and c.*345C >T disrupted interactions with miR-6875, miR-4721 and miR-564. Transient transfection of the c.*345C >T decreased luciferase activity in HEK293FT cells. miR-4721 and miR-564 mimics reduced PCSK9 expression in HepG2 cells.CONCLUSION:
PCSK9 c.*345C >T has a possible role as loss-of-function variant. miR-4721 and miR-564 downregulate PCSK9 and may be useful to improve lipid profile in FH patients.
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Coleções:
06-national
/
BR
Base de dados:
CONASS
/
SES-SP
/
SESSP-IDPCPROD
Assunto principal:
MicroRNAs
/
Epigenômica
/
Hiperlipoproteinemia Tipo II
Idioma:
En
Revista:
Epigenomics (Online)
Ano de publicação:
2021
Tipo de documento:
Article