Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.

TitleTissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.
Publication TypeJournal Article
Year of Publication2015
AuthorsNiebroj-Dobosz, Irena, Sokołowska Beata, Madej-Pilarczyk Agnieszka, Marchel Michał, and Hausmanowa-Petrusewicz Irena
JournalKardiol Pol
Date Published2015 Jan 7
ISSN0022-9032
AbstractBACKGROUND: Tissue inhibitors of matrix metalloproteinases (TIMPs) are known to be involved in cardiovascular diseases. Hitherto, they have not been examined in dilated cardiomyopathy (DCM) in course of Emery-Dreifuss muscular dystrophy (EDMD).AIM: The aim of this study was to define TIMPs in serum as they might help in defining cardiac dysfunction at early cardiological stages of this disease and detect preclinical stages of cardiomyopathy.METHODS: Twenty five EDMD patients connected with lamin A/C (AD-EDMD) or emerin (X-EDMD) deficiency and 20 healthy age-matched controls were examined. The serum levels of the tissue inhibitors TIMP-1, -2, -3 were quantified using the ELISA sandwich immunoassay procedure with appropriate antibodies. RESULTS: Serum levels of TIMP-1 were normal in autosomal AD-EDMD, or increased in the majority of X-linked EDMD. The level of TIMP-2 was decreased in 25%/21% of AD-EDMD/X-EDMD cases. TIMP-3 serum level was significantly reduced in all the examined patients. Receiver operating curves (ROC) indicated that in terms of sensitivity and specificity characteristics the performance of TIMP-3, (less that of TIMP-2), makes them the best markers of cardiac involvement among the examined TIMPs.CONCLUSIONS: Evidence is provided that the levels of TIMP-3, in some cases also TIMP-2, are decreased in Emery-Dreifuss muscular dystrophy. The decrease might be associated with an adverse effect on MMPs and remodeling of the myocardial matrix. The specific decrease of TIMP-3 indicates that this biomarker might help in early detection of cardiac involvement in EDMD. Up-regulation of TIMP-1 in the majority of patient with X-EDMD indicates on increased ECM turnover, early onset of tissue remodeling and may contribute to arrhythmia, frequently occurring in this form of the disease.
DOI10.5603/KP.a2014.0243
Alternate JournalKardiol Pol
PubMed ID25563468