A substitution mutation in LRP۸ gene is significantly associated with susceptibility to familial myocardial infarction

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 ۵۰ 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.۲۸۵۵G > A missense mutation with homozygous autosomal recessive inheritance was identified in low-density lipoprotein receptor-related protein ۸ (LRP۸) gene in all patients of a family.CONCLUSION: The c.۲۸۵۵G > A (R۹۵۲Q) mutation in LRP۸ gene in homozygous state could be considered as a possible etiology of early-onset familial MI.

Keywords:

Myocardial Infarction , Low Density Lipoprotein Receptor-Related Protein ۸ , Whole Exome Sequencing