Affordable Access

deepdyve-link
Publisher Website

A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.

Authors
  • Ghorbani, Mohammad Javad1
  • Razmi, Nematollah2
  • Tabei, Seyed Mohammad Bagher3
  • Zibaeenezhad, Mohammad Javad4
  • Goodarzi, Hamid Reza5
  • 1 PhD Candidate, Department of Genetics, Fars Science and Research Branch AND Marvdasht Branch, Islamic Azad University, Marvdasht, Iran. , (Iran)
  • 2 Associate Professor, Department of Biochemistry, Shiraz Branch, Islamic Azad University, Shiraz, Iran. , (Iran)
  • 3 Associate Professor, Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. , (Iran)
  • 4 Professor, Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. , (Iran)
  • 5 Assistant Professor, Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran. , (Iran)
Type
Published Article
Journal
ARYA atherosclerosis
Publication Date
Nov 01, 2020
Volume
16
Issue
6
Pages
301–305
Identifiers
DOI: 10.22122/arya.v16i6.1797
PMID: 34122585
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Myocardial infarction (MI) is a multifactorial disease caused by the suspension of blood circulation in a part of the myocardium. Understanding the genetic basis of MI can provide insight regarding the pathogenesis of the disease. The aim of this study was to investigate the association between pathogenic mutations and early-onset MI in five families with familial MI and without common MI risk factor. Patients with MI younger than 50 years with family history of MI and without common diagnostic criteria (obesity, diabetes, familial hypercholesterolemia, opium/alcohol use) were evaluated for pathogenic mutations by whole exome sequencing (WES) and mutation was confirmed by polymerase chain reaction (PCR)-Sanger sequencing. The c.2855G > A missense mutation with homozygous autosomal recessive inheritance was identified in low-density lipoprotein receptor-related protein 8 (LRP8) gene in all patients of a family. The c.2855G > A (R952Q) mutation in LRP8 gene in homozygous state could be considered as a possible etiology of early-onset familial MI. © 2020 Isfahan Cardiovascular Research Center & Isfahan University of Medical Sciences.

Report this publication

Statistics

Seen <100 times