Variants in miRNA Regulating Cardiac Growth Are Not a Common Cause of Hypertrophic Cardiomyopathy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F15%3A10294596" target="_blank" >RIV/00216208:11310/15:10294596 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/15:10294596 RIV/00216208:11120/15:43909385 RIV/00064203:_____/15:10294596

Výsledek na webu

<a href="http://dx.doi.org/10.1159/000369247" target="_blank" >http://dx.doi.org/10.1159/000369247</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000369247" target="_blank" >10.1159/000369247</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Variants in miRNA Regulating Cardiac Growth Are Not a Common Cause of Hypertrophic Cardiomyopathy

Popis výsledku v původním jazyce

Objectives: A substantial proportion of patients with hypertrophic cardiomyopathy (HCM) do not have causative mutations in the genes for heart sarcomere. The purpose of this study was to evaluate the association between microRNA (miRNA) sequence variantsand HCM. Methods: We performed genetic testing on 56 HCM patients who had previously been found to be negative for mutations in the 4 major genes for sarcomeric proteins. The coding and adjacent regions (120-220 nt) of selected miRNAs were analyzed forthe presence of sequence variants. The testing was based on PCR amplification of DNA-encoding miRNAs and subsequent denaturing capillary electrophoresis. Results: A total of 3 different variants were detected in the 11 selected miRNAs. These included polymorphisms rs45489294 in miRNA 208b, rs13136737 in miRNA 367 and rs9989532 in miRNA 1-2. In the patient group, the most frequent polymorphism was in miRNA 208b (10 times) followed by miRNA 367 (7 times). Both polymorphisms were found to o

Název v anglickém jazyce

Variants in miRNA Regulating Cardiac Growth Are Not a Common Cause of Hypertrophic Cardiomyopathy

Popis výsledku anglicky

Objectives: A substantial proportion of patients with hypertrophic cardiomyopathy (HCM) do not have causative mutations in the genes for heart sarcomere. The purpose of this study was to evaluate the association between microRNA (miRNA) sequence variantsand HCM. Methods: We performed genetic testing on 56 HCM patients who had previously been found to be negative for mutations in the 4 major genes for sarcomeric proteins. The coding and adjacent regions (120-220 nt) of selected miRNAs were analyzed forthe presence of sequence variants. The testing was based on PCR amplification of DNA-encoding miRNAs and subsequent denaturing capillary electrophoresis. Results: A total of 3 different variants were detected in the 11 selected miRNAs. These included polymorphisms rs45489294 in miRNA 208b, rs13136737 in miRNA 367 and rs9989532 in miRNA 1-2. In the patient group, the most frequent polymorphism was in miRNA 208b (10 times) followed by miRNA 367 (7 times). Both polymorphisms were found to o

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Cardiology

ISSN

0008-6312

e-ISSN

—

Svazek periodika

130

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

6

Strana od-do

137-142

Kód UT WoS článku

000351811300001

EID výsledku v databázi Scopus

2-s2.0-84921916979