Department of Engineering Basic Sciences, Faculty of Engineering and Natural Sciences, Malatya Turgut Ozal University, Yesilyurt, Malatya, Turkey.
Izmir Biomedicine and Genome Center, Balcova, Izmir, Turkey.
Nat Commun. 2024 Oct 2;15(1):8515. doi: 10.1038/s41467-024-52961-8.
Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder, primarily observed in populations around the Mediterranean Sea, linked to MEFV gene mutations. These mutations disrupt inflammatory responses, increasing pyrin-protein production. Traditional diagnosis relies on clinical symptoms, family history, acute phase reactants, and excluding similar syndromes with MEFV testing, which is expensive and often inconclusive due to heterozygous mutations. Here, we present a biosensor platform that detects differences in pyrin-protein levels between healthy and affected individuals, offering a cost-effective alternative to genetic testing. Our platform uses gold nanoparticle-based plasmonic chips enhanced with anti-pyrin antibodies, achieving a detection limit of 0.24 ng/mL with high specificity. The system integrates an optofluidic system and visible light spectroscopy for real-time analysis, with signal stability maintained for up to six months. Our technology will enhance FMF diagnosis accuracy, enabling early treatment initiation and providing a cost-effective alternative to genetic testing, thus improving patient care.
家族性地中海热（FMF）是一种常染色体隐性遗传疾病，主要发生在地中海地区人群中，与 MEFV 基因突变有关。这些突变会破坏炎症反应，增加 pyrin 蛋白的产生。传统的诊断依赖于临床症状、家族史、急性期反应物，以及通过 MEFV 检测排除具有相似表型的综合征，但这种方法费用昂贵，且由于存在杂合突变，往往结果不确定。在这里，我们提出了一种生物传感器平台，该平台可以检测健康个体和受影响个体之间 pyrin 蛋白水平的差异，为基因检测提供了一种具有成本效益的替代方法。我们的平台使用基于金纳米颗粒的等离子体芯片增强抗 pyrin 抗体，实现了 0.24ng/ml 的检测限，具有很高的特异性。该系统集成了光流系统和可见光谱学进行实时分析，信号稳定性可维持长达六个月。我们的技术将提高 FMF 的诊断准确性，使早期治疗得以启动，并为基因检测提供具有成本效益的替代方法，从而改善患者的治疗效果。
