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Article

Identification of a functional missense variant in the matrix metallopeptidase 10 (MMP10) gene in two families with premature myocardial infarction.

Scientific reports - 28 May 2024

Verovenko Viktor, Tennstedt Stephanie, Kleinecke Mariana, Kessler Thorsten, Schunkert Heribert, Erdmann Jeanette, Ensminger Stephan, Aherrahrou Zouhair

Abstract excerpt

A positive family history is a major independent risk factor for atherosclerosis, and genetic variation is an important aspect of cardiovascular disease research. We identified a heterozygous missense variant p.L245P in the MMP10 gene in two families with premature myocardial infarction using whole-exome sequencing. The aim of this study was to investigate the consequences of this variant using in-silico and...

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Identifiers

PMID: 38806571
DOI: 10.1038/s41598-024-62878-3
PMCID: PMC11133425

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