ArticleEuropean heart journal. Case reports2025
Could a DJ-1/PARK7 pathogenic variant be a cause of cardiac hypertrophy?-a case report.
Article in European heart journal. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Background: DJ-1, a protein encoded by the PARK7 gene, is crucial in the regulation of oxidative stress and mitochondrial function. Experimental studies in murine models suggest that DJ-1 deficiency results in pronounced cardiac hypertrophy and an elevated risk of heart failure, especially under conditions of oxidative stress. Nonetheless, this association had not yet been substantiated in human studies. Case Summary: A 37-year-old male with early-onset Parkinson's disease due to a pathogenic variant of Discussion: To the best of our knowledge, this case represents the first documented instance in humans where the loss of DJ-1 protein has been implicated as a probable aetiology of HCM.
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