Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

Free Radical Biology & Medicine
Hélène ChoquetSaverio Francesco Retta

Abstract

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. Clinical assessment and cerebral susceptibility-weighted magnetic resonance imaging (SWI) were performed to determine total and large (≥5mm in diameter) lesion counts as well as ICH in 188 Hispanic CCM1 patients harboring the founder KRIT1/CCM1 'common Hispanic mutation' (CCM1-CHM). Samples were genotyped on the Affymetrix Axiom Genome-Wide LAT1 Human Array. We analyzed 1,122 g...Continue Reading

References

Sep 2, 1998·Journal of Neurosurgery·G BrunoD Chyatte
Nov 24, 1999·Biochemical and Biophysical Research Communications·S YoonH Kuivaniemi
Aug 22, 2001·Current Drug Metabolism·E HedlundM Warner
Mar 23, 2002·Circulation Research·Francis G Spinale
Jul 10, 2002·Journal of the American College of Cardiology·Nicolas LamblinPhilippe Amouyel
Oct 22, 2002·Lancet·Daniel W Nebert, David W Russell
Apr 11, 2003·The Journal of Biological Chemistry·Erik G LundDavid W Russell
Sep 15, 2004·Toxicology and Applied Pharmacology·Richard C ZangarSeema Verma
Nov 6, 2004·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Jiping TangJohn H Zhang
Apr 28, 2005·Current Medicinal Chemistry. Cardiovascular and Hematological Agents·Tomohiro Nakayama
Jul 5, 2005·Molecular Pharmacology·Chris StironeVincent Procaccio
Aug 12, 2005·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Yao-Ching FangTeng-Nan Lin
Jun 24, 2006·Journal of Applied Physiology·Diana N KrauseDale A Pelligrino
Aug 24, 2006·Pharmacology & Therapeutics·Auinash Kalsotra, Henry W Strobel
Oct 17, 2006·Annals of Neurology·Christian DenierUNKNOWN Société Française de Neurochirurgie
Nov 28, 2006·Nature Reviews. Cancer·Daniel W Nebert, Timothy P Dalton
May 1, 2007·DNA and Cell Biology·Sung-Chou LiWen-Chang Lin
Jun 30, 2007·Clinical and Experimental Pharmacology & Physiology·Sue P Duckles, Diana N Krause
Nov 16, 2007·Pharmacology & Therapeutics·Magnus Ingelman-SundbergCristina Rodriguez-Antona
May 31, 2008·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Samantha GalluzziGiovanni B Frisoni
Nov 1, 2008·Stroke; a Journal of Cerebral Circulation·Rustam Al-Shahi SalmanUNKNOWN Angioma Alliance Scientific Advisory Board
Nov 13, 2008·Antioxidants & Redox Signaling·Masuko Ushio-Fukai
Jun 6, 2009·Annual Review of Biochemistry·David W RussellTiina Kotti
Aug 12, 2009·Annals of Neurology·Yongmei ChenWilliam L Young
Aug 26, 2009·Journal of Molecular Neuroscience : MN·Anália Nusya Medeiros GarciaLuiz Athayde-Junior
Oct 9, 2009·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Ying WangHenry W Strobel
Oct 27, 2009·Nucleic Acids Research·Lewis Y GeerStephen H Bryant

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Citations

Sep 19, 2016·The International Journal of Biochemistry & Cell Biology·Saverio Francesco Retta, Angela J Glading
Feb 9, 2018·Haemophilia : the Official Journal of the World Federation of Hemophilia·Kevin J Zhang, M Chitlur
Nov 21, 2019·Journal of Cellular and Molecular Medicine·Peter V DiStefano, Angela J Glading
Apr 23, 2020·Antioxidants·Hyun Ah KimSaverio Francesco Retta
Oct 9, 2019·International Journal of Molecular Sciences·Francesco Vieceli Dalla SegaSaverio Francesco Retta
Sep 5, 2019·International Journal of Molecular Sciences·Yazun Bashir Jarrar, Su-Jun Lee
Jan 7, 2021·Expert Opinion on Drug Delivery·Andrea PerrelliSaverio Francesco Retta
Jan 15, 2021·Journal of Cell Science·Elisa De LucaSaverio Francesco Retta
May 28, 2021·The Journal of Clinical Investigation·Miguel Alejandro Lopez-RamirezMark H Ginsberg
Jan 10, 2020·Cellular Signalling·Federica FinettiLorenza Trabalzini

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Methods Mentioned

BETA
genotyping

Software Mentioned

UCSC Genome Browser Assembly
R
PLINK
Ensembl Phylogenetic Context
STATA
DAVID Gene Functional Classification Tool

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