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Title: Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1
Authors: Choquet, Hélène
Trapani, Eliana
Goitre, Luca
Trabalzini, Lorenza 
Akers, Amy
Fontanella, Marco
Hart, Blaine L.
Morrison, Leslie A.
Pawlikowska, Ludmila
Kim, Helen
Retta, Saverio Francesco
Keywords: 1,25-OH2-D3 1,25-dihydroxyvitamin D3; 24-OHC 24(S)-hydroxycholesterol; 25-OH-D3 25-hydroxyvitamin D3; 27-OHC 27-hydroxycholesterol; AA arachidonic acid; Abbreviations CCM Cerebral Cavernous Malformation; BBB blood-brain barrier; CHM common hispanic mutation; CYP cytochrome P450; ECM extracellular matrix; EET epoxyeicosatrienoic acids; ICH intracerebral hemorrhage; LT leukotrienes; MMP matrix metalloproteinase; NVU neurovascular unit; PG prostaglandins; ROS reactive oxygen species; SNP single nucleotide polymorphism; Biochemistry; Physiology (medical)
Issue Date: 2016
Project: None 
Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions. CCM lesions manifest across a range of different phenotypes, including wide differences in lesion number, size and susceptibility to intracerebral hemorrhage (ICH). Oxidative stress plays an important role in cerebrovascular disease pathogenesis, raising the possibility that inter-individual variability in genes related to oxidative stress may contribute to the phenotypic differences observed in CCM1 disease. Here, we investigated whether candidate oxidative stress-related cytochrome P450 (CYP) and matrix metalloproteinase (MMP) genetic markers grouped by superfamilies, families or genes, or analyzed individually influence the severity of CCM1 disease.
ISSN: 0891-5849
DOI: 10.1016/j.freeradbiomed.2016.01.008
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