مجله دانشکده پزشکی اصفهان (Feb 2015)
Relationship between the Matrix Metalloproteinases and the Occurrence of Central Nervous System Bleeding in Factor XIII Deficiency
Abstract
Background: Matrix metalloproteinase (MMP) has a crucial role in degradation of basal membrane and tissue remodeling and has a possible role in occurrence of central nervous system (CNS) bleeding. Factor XIII deficiency is an extremely rare bleeding disorder with estimated incidence of 1 per 2 million. Since central nervous system bleeding is the main cause of death among these patients, this study aimed to assess to role of MMP-9 and MMP-2 in occurrence of this bleeding in factor XIII deficiency. Methods: In this case-control study, gene expression of MMP-9 and MMP-2 was determined via quantitative real-time reverse transcription polymerase chain reaction (Q-RT-PCR) assays in 42 patients with factor XIII deficiency that were divided in two groups of with (case) and without central nervous system bleeding (control). Gene expression was compared with comparison method (2–ΔΔcCt) and glyceraldehyde 3-phosphate dehydrogenase (GAPDH) was used for standardization of gene expression. Findings: Cord bleeding was the most common bleeding episode among all the patients. Overexpression of MMP-9 was observed among 13 patients in case (72.2%) and 3 patients in control group (12.5%) that showed a statistically significant difference (P = 0.001, CI95%: 2.8-95.3). Conclusion: Patients with factor XIII deficiency have a wide spectrum of clinical presentations that has a crucial role in screening and diagnosis of the disease. According to results of this study, overexpression of MMP-9, due to polymorphism or inflammation, had a role in pathogenesis of central nervous system bleeding. Inhibition of MMP-9 may have a role in decreasing the rate of morbidity and mortality among patients with factor XIII deficiency.
