A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction
نویسندگان
1 Associate Professor, Department of Biochemistry, Shiraz Branch, Islamic Azad University, Shiraz, Iran
2 Professor, Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
3 PhD Candidate, Department of Genetics, Fars Science and Research Branch AND Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
4 Associate Professor, Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
5 Assistant Professor, Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
doi
10.22122/arya.v16i6.1797چکیده
BACKGROUND: 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.METHODS: 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.RESULTS: 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.CONCLUSION: The c.2855G > A (R952Q) mutation in LRP8 gene in homozygous state could be considered as a possible etiology of early-onset familial MI.
