Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma

Simioni, P., Kalafatis, M., Millar, D. S., Henderson, S. C., Luni, C., Cooper, David Neil and Girolami, A. 1996. Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma. Blood -New York- 88 (6) , pp. 2101-2108.

Full text not available from this repository.

Abstract

About 30% of human plasma protein C (PC) is of lower molecular weight than the predominant alpha-form. The minor beta-form arises as a consequence of the lack of glycosylation at Asn329. Although the functional role of Asn329 has been investigated by in vitro mutagenesis, until now no naturally occurring mutations have been reported at this site. We describe here the case of two identical twin sisters compound heterozygous for two novel PC mutations: Cys78-->Stop inherited from the maternal side and Asn329-->Thr inherited from the paternal side, associated with the presence of only the beta-form of PC in plasma. The Cys78-->Stop substitution is predicted to abolish PC synthesis from one allele, whereas the Asn329-->Thr substitution results in the reduced synthesis of a beta PC variant with decreased functional activity. PCN329T from the two monovular twin sisters was purified and its active form APCN329T was assessed for its ability to inactivate factor Va. Whereas no differences were observed between the activation rates of normal PC and PCN329T, APCN329T inactivated human factor Va with a rate slower than the normal APC. This is the first report of a PC defect involving glycosylation of the molecule. This defect results in the presence of only the beta-form of PC in human plasma and is responsible for the reduced anticoagulant activity observed.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: American Society of Hematology
ISSN: 0006-4971
Last Modified: 04 Jun 2017 06:32
URI: http://orca.cf.ac.uk/id/eprint/61658

Citation Data

Cited 13 times in Google Scholar. View in Google Scholar

Cited 18 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item