Ozerdem Mehmet Emre, Akbulut Müge, Esenboga Kerim
Faculty of Medicine Cardiology Department, Ankara University, Altindag 06230, Turkey.
Eur Heart J Case Rep. 2025 Jun 10;9(6):ytaf278. doi: 10.1093/ehjcr/ytaf278. eCollection 2025 Jun.
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.
A 37-year-old male with early-onset Parkinson's disease due to a pathogenic variant of presented with chest pain. Initial examination showed voltage criteria for left ventricular hypertrophy on ECG and concentric hypertrophy of the left ventricle on transthoracic echocardiography. Genetic testing confirmed a homozygous DJ-1 mutation. Other potential causes of concentric left ventricular hypertrophy, such as cardiac amyloidosis, Fabry disease, and sarcoidosis, were ruled out, leading to a final diagnosis of hypertrophic cardiomyopathy (HCM). A genetic analysis conducted to identify mutations in genes associated with HCM yielded negative results, supporting the conclusion that the patient's cardiac hypertrophy may be linked to the pathogenic variant of
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.
DJ-1是一种由PARK7基因编码的蛋白质，在氧化应激和线粒体功能的调节中起关键作用。对小鼠模型的实验研究表明，DJ-1缺乏会导致明显的心脏肥大和心力衰竭风险升高，尤其是在氧化应激条件下。然而，这种关联在人体研究中尚未得到证实。
一名37岁男性因[具体致病变体]的致病变体患有早发性帕金森病，出现胸痛症状。初步检查显示心电图有左心室肥大的电压标准，经胸超声心动图显示左心室向心性肥大。基因检测证实存在纯合DJ-1突变。排除了其他导致左心室向心性肥大的潜在原因，如心脏淀粉样变性、法布里病和结节病，最终诊断为肥厚型心肌病（HCM）。为确定与HCM相关基因中的突变而进行的基因分析结果为阴性，支持了患者的心脏肥大可能与[具体致病变体]的致病变体有关的结论。
据我们所知，该病例是人类中首个有记录的实例，其中DJ-1蛋白的缺失被认为可能是HCM的病因。
