Department of Clinical Sciences and Translational Medicine, University of Rome, Tor Vergata Via Montpellier 1, 00133, Rome, Italy.
Department of Cardiac Surgery Unit Chair Centre for Rare Diseases for Marfan Syndrome and Related Disorders, University of Tor Vergata General Hospital, Viale Oxford, 81 00133, Rome, Italy.
BMC Oral Health. 2019 Jul 24;19(1):161. doi: 10.1186/s12903-019-0854-x.
Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome.
Two groups were analyzed in this case-control study. A group of 28 subjects with Marfan syndrome (MG) was recruited from the Centre for Rare Disease, Marfan Clinic of Tor Vergata University Hospital. The second sample, 23 subjects, with the same characteristics and without any syndrome, was the control group (CG). Saliva and gingival crevicular fluid were collected and transferred to a sterile test tube and stored frozen at - 20 °C until analysis at the Medical Chemistry Laboratory. Gelatin substrate zymography was used for the evaluation and characterization of saliva and crevicular fluid proteinases. Correlation test and Student's t-test have been used to analyze data.
In all samples different gelatin-degrading activities were observed. Two bands, which are related to the molecular weights of pro-MMP-9 and active MMP-9, respectively, were detectable in 100% of Marfan and control samples. MMP-2 activity was higher in Marfan group. Additional bands (55/48 kDa), corresponding to the activated forms of collagenase (MMP-13), were observed in saliva samples of both groups.
The association of an enhanced activity by MMP-13 with an increased amount of active MMP-9 might be an important biomarker for the diagnosis of Marfan syndrome.
本研究旨在评估马凡综合征患者唾液和龈沟液中的明胶酶活性。
本病例对照研究分析了两组人群。一组 28 名马凡综合征患者（MG 组）来自 Tor Vergata 大学医院马凡综合征罕见病中心。第二组 23 名具有相同特征且无任何综合征的受试者为对照组（CG 组）。采集唾液和龈沟液，转移至无菌试管中，在-20°C 下冷冻保存，直至在医学化学实验室进行分析。明胶底物酶谱法用于评估和表征唾液和龈沟液蛋白水解酶。采用相关检验和学生 t 检验分析数据。
在所有样本中均观察到不同的明胶降解活性。马凡综合征组和对照组 100%的样本中均可检测到分别与 pro-MMP-9 和活性 MMP-9 分子量相关的两条带。马凡综合征组中 MMP-2 活性较高。两组的唾液样本中均可观察到额外的带（55/48kDa），对应胶原酶（MMP-13）的激活形式。
MMP-13 活性增强与活性 MMP-9 增加的关联可能是马凡综合征诊断的重要生物标志物。
