How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

Abstract

The aim of this project was to evaluate the relationship of matrix metalloproteinase-9 (MMP-9) genetic variation and its serum concentration with autism spectrum disorder (ASD). One hundred ASD and 120 controls were enrolled in this study. Genomic DNA was extracted from blood and MMP-9 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism and serum levels were measured by enzyme-linked immunosorbent assay. The frequencies of CC, CT, and TT genotypes were 72%, 26%, and 2% in controls and 31%, 57%, and 12% in ASD, respectively. The frequencies of C and T alleles in ASD were 59.5% and 40.5%, and controls were 86% and 14%, respectively. There is a significant increase in serum MMP-9 levels in ASD as compared to controls. We have also shown that TT genotype is significantly associated with increase serum MMP-9 levels in patients (TT, CT, and CC serum levels were 91.77 ± 10.53, 70.66 ± 7.21, and 38.66 ± 5.52 and in controls were 55.55 ± 11.39, 42.66 ± 7.85, and 30.55 ± 6.34 ng/ml, respectively). It is concluded that there is a significant association between rs3918242 MMP-9 polymorphism and its serum concentration with autism. We also suggest that TT genotype is associated with increased MMP9 expression and may be a risk factor for ASD.

Correlation between Extracellular Matrix Metalloproteinase Inducer in Peripheral Blood and Serum MMPs in patients with Acute Coronary Syndrome

“…The above results indicate that the aggravation of ACS patients will directly lead to the increase of EMMPRIN in their peripheral blood, which is similar to previous studies. In addition, 64 slice spiral CT showed that the expression of MMPs in the serum of patients with AMI, UAP and SAP also showed significant differences, and compared with healthy people, the expression level of MMPs in patients was significantly increased, which was consistent with previous studies (28,29).…”

Clinical significance of matrix metalloproteinase-9 in Fragile X Syndrome

“…The up or down regulation of MMP-9 activity has detrimental effects on brain function 13 and underlies deficits associated with many neurodevelopmental disorders such as autism spectrum disorder 55 . Indeed increased levels of MMP-9 have been reported in the amniotic fluid 55 and in the serum of the patients with ASD 56 . The experimental data in ASD without FXS remains very limited as compared to ASD with FXS.…”

Metalloproteinases as Biomarkers and Sociomarkers in Human Health and Disease

“…MMPs exert an important function in neuroplasticity, synaptic changes, and neuronal growth [135]. A case-control study showed a positive association between the rs3918242 MMP-9 polymorphism (-1562C/T) and increased serum MMP-9 levels in patients with AD, and finally, the authors propose the TT genotype as a genetic risk factor [136]. Extensive research has been conducted on genetic modification associated with autism spectrum disorder (ASD), specifically focusing on FMR1, the gene responsible for producing fragile X mental retardation protein (FMRP) [79].…”

“…Proteases are important enzymes that are involved in many aspects of biology, and proteolysis plays a key role in protein post-translational modifications. The 473 human proteases are divided into five classes of catalysis as reported in the MEROPS database: metallo (148), serine (152), cysteine (136), aspartic acid (21), and threonine proteases. The main function of proteases is to cleave or degrade all proteins [1][2][3][4].…”