Sökning: (AMNE:(MEDICAL AND HEALTH SCIENCES Basic Medicine Medicinal Chemistry)) pers:(Hillarp Andreas) pers:(Dahlbäck Björn) >
Activated protein C...
Activated protein C resistance : from phenotype to genotype and clinical practice
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- Hillarp, Andreas (författare)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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- Dahlbäck, Björn (författare)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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- Zöller, Bengt (författare)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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(creator_code:org_t)
- 1995
- 1995
- Engelska 12 s.
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Ingår i: Blood Reviews. - 0268-960X. ; 9:4, s. 201-212
- Relaterad länk:
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http://dx.doi.org/10...
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visa fler...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- The anticoagulant protein C system is an important regulator of the blood coagulation process. Its targets are the procoagulant cofactors factor Va and factor VIIIa, which are cleaved and inactivated by activated protein C, protein S and intact factor V working as cofactors. Genetic defects of protein C or protein S were, together with antithrombin III deficiency, the previously established major causes of familial venous thromboembolism. However, these abnormalities are found in less than 5-10% of patients with thrombosis. Inherited resistance to activated protein C was recently identified as a major risk factor for venous thromboembolism. The activated protein C-resistance phenotype is found in 20-60% of the patients with venous thrombosis, depending on selection criteria and on the prevalence of activated protein C-resistance in the population. The frequency of activated protein C-resistance is 2-10% in the normal populations studied so far. In more than 90% of cases, the molecular background for the activated protein C-resistance is a single point mutation in the factor V gene, which predicts substitution of an arginine at position 506 by a glutamine. Mutated factor V is activated by thrombin or factor Xa in the normal way, but impaired inactivation of mutated factor Va by activated protein C results in a life-long hypercoagulability. Owing to the high prevalence of activated protein C-resistance in the population, it occasionally occurs in patients with deficiency of protein S, protein C or antithrombin III. Individuals with combined defects suffer more severely from thrombosis, and often at a younger age, than those with single defects, suggesting thrombophilia to be a multigenetic disease.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Läkemedelskemi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medicinal Chemistry (hsv//eng)
Nyckelord
- activated protein C
- anticoagulant protein
- arginine
- blood clotting factor 10a
- blood clotting factor 5
- blood clotting factor 5a
- blood clotting factor 8a
- glutamine
- mutant protein
- protein S
- thrombin
- amino acid substitution
- antithrombin deficiency
- blood clotting
- clinical practice
- genotype
- human
- hypercoagulability
- phenotype
- point mutation
- prevalence
- priority journal
- protein C deficiency
- protein degradation
- protein S deficiency
- review
- risk factor
- thromboembolism
- thrombophilia
- vein thrombosis
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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