Key result
Homozygous LRP8 R952Q mutation linked to early-onset familial MI.
Why the study?
Understanding the genetic basis of MI can provide insight into its pathogenesis, prompting investigation into pathogenic mutations associated with early-onset MI in families without common risk factors.
Observational (n=40)
The c.2855G > A (R952Q) mutation in the LRP8 gene may be a genetic etiology for early-onset familial myocardial infarction in patients without traditional risk factors.
Suggests targeted genetic evaluation in early-onset familial MI; hypothesis-generating and leaves open validation before clinical adoption.
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.
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Ghorbani et al. (2020) conducted an observational in Familial early-onset myocardial infarction (n=40). c.2855G > A (p.R952Q) mutation in LRP8 gene vs. Absence of mutation was evaluated on Identification of pathogenic mutations associated with early-onset familial MI. The c.2855G > A (R952Q) missense mutation in the LRP8 gene in a homozygous state was identified as a possible etiology for early-onset familial myocardial infarction.
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