Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game.

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Bereczky Z, Kovacs KB, Muszbek L

Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game.

Clin Chem Lab Med. 2010 Dec;48 Suppl 1:S53-66. doi: 10.1515/CCLM.2010.369. Epub 2010 Nov 5.

PubMed ID

21054189 [ View in PubMed

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Abstract

Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins that play an important role in the regulation of blood coagulation as natural anticoagulants. PC is activated by thrombin and the resulting activated PC (APC) inactivates membrane-bound activated factor VIII and factor V. The free form of PS is an important cofactor of APC. Deficiencies in these proteins lead to an increased risk of venous thromboembolism; a few reports have also associated these deficiencies with arterial diseases. The degree of risk and the prevalence of PC and PS deficiency among patients with thrombosis and in those in the general population have been examined by several population studies with conflicting results, primarily due to methodological variability. The molecular genetic background of PC and PS deficiencies is heterogeneous. Most of the mutations cause type I deficiency (quantitative disorder). Type II deficiency (dysfunctional molecule) is diagnosed in approximately 5%-15% of cases. The diagnosis of PC and PS deficiencies is challenging; functional tests are influenced by several pre-analytical and analytical factors, and the diagnosis using molecular genetics also has special difficulties. Large gene segment deletions often remain undetected by DNA sequencing methods. The presence of the PS pseudogene makes genetic diagnosis even more complicated.

DrugBank Data that Cites this Article

Drug Enzymes

Drug	Enzyme	Kind	Organism	Pharmacological Action	Actions
Antihemophilic factor, human recombinant	Vitamin K-dependent protein C	Protein	Humans	Unknown	Substrate	Details
Lonoctocog alfa	Vitamin K-dependent protein C	Protein	Humans	Unknown	Inactivator	Details
Moroctocog alfa	Vitamin K-dependent protein C	Protein	Humans	Unknown	Inactivator	Details