Studies on phospholipid antibodies, APC-resistance and associated mutation in the coagulation factor V gene

Autor: Maria Bokarewa, Katarina Bremme, Gunnar Falk, Margareta Blombäck, M. Sten-Linder, N. Egberg
Rok vydání: 1995
Předmět:
Adult
medicine.medical_specialty
Abortion
Habitual
Adolescent
Molecular Sequence Data
Phospholipid
Phosphatidylserines
Autoimmune Diseases
chemistry.chemical_compound
Pregnancy
Internal medicine
Thromboembolism
medicine
Cardiolipin
Humans
Point Mutation
Genetic Predisposition to Disease
Phospholipids
Lupus anticoagulant
biology
medicine.diagnostic_test
Base Sequence
Point mutation
Factor V
Hematology
Middle Aged
medicine.disease
Antiphospholipid Syndrome
Molecular biology
Enzyme Activation
Endocrinology
Coagulation
chemistry
Immunoglobulin M
Antibodies
Anticardiolipin
Immunoglobulin G
Lupus Coagulation Inhibitor
biology.protein
Antibodies
Antiphospholipid
lipids (amino acids
peptides
and proteins)
Female
Partial Thromboplastin Time
Disease Susceptibility
Factor V Deficiency
Antibody
Partial thromboplastin time
Protein C
Zdroj: Thrombosis research. 78(3)
ISSN: 0049-3848
Popis: The influence of antibodies against phospholipids (PLa) on APC response was investigated in 155 women with a history of thromboembolism and/or repeated foetal losses. PLa were determined as antibodies against cardiolipin (CLa) and phosphatidyl serine (PSa) and as lupus anticoagulant (LA) tested by dilute Russell's Viper Venom time and by the Textarin/Ecarin ratio. APC-response was studied by a clotting (aPTT-based) and by an amidolytic (factor IXa-X-based) assay. A reduced response to APC (APC-resistance) was found in 49% of 65 PLa-positive and in 13% of 90 PLa-negative samples (chi 2 = 23.9; p < 0.5 x 10(-4)). It was more common in the samples with LA, as compared to CLa+PSa positive (58% vs. 30%, not significant). The presence of the mutation causing Arg506-Gln substitution in coagulation factor V was investigated in 84 samples. The occurrence of the mutation in APC-resistant patients with CLa+PSa or with LA in one of the two assays was similar to those without PLa (84% and 100%, respectively). In the absence of APC resistance, the occurrence of the mutation was similar in the samples with and without PLa (14% vs. 11%). Samples with LA, determined by both tests used, comprised a special group where the frequency of the mutation in the APC resistant samples was significantly reduced (p < 0.01). In the latter samples, the pathogenic mechanism of APC resistance may be connected with the influence on phospholipid membranes.
Databáze: OpenAIRE
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