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Mol Biol Rep

Title:		Polymorphisms and gene expression of metalloproteinases and their inhibitors associated with cerebral ischemic stroke in young patients with sickle cell anemia
Author(s):		do Kleyton Palmeira O; da Silva Freire AK; de Nobrega DN; Dos Santos Souza R; Farias ICC; de Mendonca Belmont TF; da Silva AS; da Silva Arcanjo G; da Silva Araujo A; Dos Anjos ACM; de Araujo ARL; Bezerra MAC; de Moura P; do Socorro Mendonca Cavalcanti M; Vasconcelos LRS;
Address:		"Instituto Aggeu Magalhaes Research Center - IAM-FIOCRUZ-PE, Av. Professor Moraes Rego, S/N, Recife, PE, 50.740-465, Brazil. Institute of Biological Sciences and Faculty of Medical Sciences, University of Pernambuco, Recife, PE, Brazil. Department of Biological Sciences, Federal University of Pernambuco, Recife, PE, Brazil. Hematology and Hemotherapy Foundation of Pernambuco - HEMOPE, Recife, Brazil. Instituto Aggeu Magalhaes Research Center - IAM-FIOCRUZ-PE, Av. Professor Moraes Rego, S/N, Recife, PE, 50.740-465, Brazil. luydson.vasconcelos@fiocruz.br"
Journal Title:		Mol Biol Rep
Year:		2023
Volume:		20230201
Issue:		4
Page Number:		3341 - 3353
DOI:		10.1007/s11033-023-08262-2
ISSN/ISBN:		1573-4978 (Electronic) 0301-4851 (Linking)
Abstract:		"BACKGROUND: Sickle cell anemia (SCA) is a genetic disease with great clinical heterogeneity and few viable strategies for treatment; hydroxyurea (HU) is the only widely used drug. Thus, the study of single nucleotide polymorphisms (SNPs) and the gene expression of MMPs 1, 2, 9, 7 and TIMPs 1 and 2, which are involved in the regulation of extracellular matrix, inflammation, and neuropathies, may provide further insights into the pathophysiology of the disease and elucidate biomarkers and molecules as potential therapeutic targets for patients with SCA. METHODS AND RESULTS: We evaluated 251 young individuals with SCA from northeastern Brazil. The groups were divided according to vaso-occlusive crisis (VOC) and cerebrovascular disease (CVD), compared to control individuals. SNP detection and gene expression assays were performed by real-time PCR, TaqMan system(R). Both the expression levels of MMP1 gene, and the SNP MMP1-1607 1G/2G were associated with the risk of cerebral ischemic stroke (IS), and the expression of MMP1 was also associated with a higher frequency of VOC/year. Expression levels of MMP7, TIMP1, and TIMP2 were increased in patients conditioned to IS. The SNP 372T>C (rs4898) TIMP1 T alleles were more frequent in patients with > 5 VOC events/year. The SNP rs17576 of MMP9 showed differences in gene expression levels; it was increased in the genotypes AG, and AG+GG. CONCLUSION: The findings of this study, the SNPs, and expression provide initial support for understanding the role of MMPs-TIMPs in the pathophysiology of SCA in young patients"
Keywords:		"Humans Matrix Metalloproteinase 1/genetics *Ischemic Stroke *Volatile Organic Compounds *Anemia, Sickle Cell/complications/genetics *Stroke/genetics Ischemia Polymorphism, Single Nucleotide/genetics Matrix Metalloproteinases/genetics Gene Expression Ische;"
Notes:		"Medlinedo Kleyton Palmeira, O da Silva Freire, Ana Karla de Nobrega, Debora Nascimento Dos Santos Souza, Roberta Farias, Isabela Cristina Cordeiro de Mendonca Belmont, Taciana Furtado da Silva, Andreia Soares da Silva Arcanjo, Gabriela da Silva Araujo, Aderson Dos Anjos, Ana Claudia Mendonca de Araujo, Antonio Roberto Lucena Bezerra, Marcos Andre Cavalcanti de Moura, Patricia Muniz Mendes Freire do Socorro Mendonca Cavalcanti, Maria Vasconcelos, Luydson Richardson Silva eng Code 001/Capes/ Netherlands 2023/02/01 Mol Biol Rep. 2023 Apr; 50(4):3341-3353. doi: 10.1007/s11033-023-08262-2. Epub 2023 Feb 1"