Abstract
Familial Mediterranean fever (FMF) is an autoinflammatory disease, characterized by MEFV gene mutations and self-limited recurrent episodes of fever and localized serositis. Complement system is a key regulator of the inflammatory process. The aim of this study was to investigate the genetic alterations and mRNA expression pattern of C5aR and C5L2 genes in neutrophils from attack-free FMF patients. No mutations were observed in the two receptors' genes, while the genetic alteration observed in the C5aR1 gene was identified as N279 K polymorphic variant. Furthermore, lower mRNA expression of C5L2 gene was observed in neutrophils from FMF patients compared to control subjects. The binding capacity of rhC5a and the ability to produce reactive oxygen species was similar in neutrophils from healthy subjects and FMF patients and independent of the presence of N279 K polymorphism or mRNA expression of C5L2.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Base Sequence
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Child
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Child, Preschool
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Cytoskeletal Proteins / genetics
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Familial Mediterranean Fever / genetics*
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Familial Mediterranean Fever / pathology*
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Female
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Gene Expression Regulation
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Genetic Predisposition to Disease*
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Mutation / genetics
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Neutrophils / metabolism*
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Neutrophils / pathology*
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Polymorphism, Restriction Fragment Length / genetics
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Polymorphism, Single Nucleotide / genetics
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Pyrin
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Reactive Oxygen Species / metabolism
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Receptor, Anaphylatoxin C5a
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Receptors, Chemokine / genetics*
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Receptors, Complement / genetics*
Substances
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C5AR1 protein, human
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C5aR2 protein, human
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Cytoskeletal Proteins
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MEFV protein, human
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Pyrin
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RNA, Messenger
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Reactive Oxygen Species
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Receptor, Anaphylatoxin C5a
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Receptors, Chemokine
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Receptors, Complement