Journal article
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome
The journal of maternal-fetal & neonatal medicine, Vol.25(11), pp.2322-2325
11/01/2012
DOI: 10.3109/14767058.2012.694923
PMID: 22594569
Abstract
Objective: Recent preliminary evidence suggests that gene mutations in the alternative pathway of complement may play a crucial role in the pathogenesis of HELLP syndrome. To verify this hypothesis, a consecutive series of women who developed the syndrome was screened for variants in alternative pathway genes. Methods: The coding sequences and intron-exon boundaries of the complement factor H (CFH), complement factor I (CFI), Membrane Cofactor Protein (MCP), complement factor B (CFB) and C3 were sequenced in 33 women with a diagnosis of HELLP syndrome. Results: Three patients carried heterozygotic variants - two in CFI and one in MCP. One of the two CFI mutations, was previously described as an unremarkable polymorphism. Conversely, computational analyses for the remaining two cases suggest that they may have a functional impact. Conclusions: The present study confirms that the alternative pathway of complement may play a role in the pathogenesis of HELLP syndrome. However, its overall contribution to the determinism of the syndrome is less relevant than initially reported.
Details
- Title: Subtitle
- The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome
- Creators
- Francesca CrovettoNicolò Borsa - Laboratory of Medical Genetics, Fondazione Cà Granda, Ospedale Maggiore PoliclinicoBarbara Acaia - Department Obstet-Gynecol, Fondazione Cà GrandaCarla Nishimura - Department of Otolaryngology-Head & Neck Surgery, Carver College of Medicine, University of IowaKathy Frees - Department of Otolaryngology-Head & Neck Surgery, Carver College of Medicine, University of IowaRichard J. H SmithFlora PeyvandiRoberta Palla - U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie A. Bianchi Bonomi, Hemophilia and Thrombosis Center, Fondazione Cà Granda Ospedale Maggiore Policlinico, Dipartimento di Medicina Interna, Università degli Studi di MilanoMassimo Cugno - U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie A. Bianchi Bonomi, Hemophilia and Thrombosis Center, Fondazione Cà Granda Ospedale Maggiore Policlinico, Dipartimento di Medicina Interna, Università degli Studi di MilanoSilvana Tedeschi - Laboratory of Medical Genetics, Fondazione Cà Granda, Ospedale Maggiore PoliclinicoPierangela Castorina - Medical Genetics Service, Fondazione Cà Granda, Ospedale Maggiore PoliclinicoEdgardo Somigliana - Department Obstet-Gynecol, Fondazione Cà GrandaGianluigi Ardissino - Department of Pediatric Nephrology, Fondazione Cà Granda, Ospedale Maggiore PoliclinicoLuigi Fedele
- Resource Type
- Journal article
- Publication Details
- The journal of maternal-fetal & neonatal medicine, Vol.25(11), pp.2322-2325
- DOI
- 10.3109/14767058.2012.694923
- PMID
- 22594569
- NLM abbreviation
- J Matern Fetal Neonatal Med
- ISSN
- 1476-7058
- eISSN
- 1476-4954
- Publisher
- Taylor & Francis
- Language
- English
- Date published
- 11/01/2012
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006441902771
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