Document Detail

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.
MedLine Citation:
PMID:  16849641     Owner:  NLM     Status:  MEDLINE    
Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, and molecular genetic status of the PLG gene of 50 patients. The most common clinical manifestations among these patients were ligneous conjunctivitis (80%) and ligneous gingivitis (34%), followed by less common manifestations such as ligneous vaginitis (8%), and involvement of the respiratory tract (16%), the ears (14%), or the gastrointestinal tract (2%). Four patients showed congenital occlusive hydrocephalus, 2 with Dandy-Walker malformation of cerebellum. Venous thrombosis was not observed. In all patients, plasma PLG levels were markedly reduced. In 38 patients, distinct mutations in the PLG gene were identified. The most common genetic alteration was a K19E mutation found in 34% of patients. Transient in vitro expression of PLG mutants R134K, delK212, R216H, P285T, P285A, T319_N320insN, and R776H in transfected COS-7 cells revealed significantly impaired secretion and increased degradation of PLG. These results demonstrate impaired secretion of mutant PLG proteins as a common molecular pathomechanism in type I PLG deficiency.
Katrin Tefs; Maria Gueorguieva; Jürgen Klammt; Carl M Allen; Dilek Aktas; Fehim Y Anlar; Sultan D Aydogdu; Deborah Brown; Ergin Ciftci; Patricia Contarini; Carl-Erik Dempfle; Miroslav Dostalek; Susanne Eisert; Aslan Gökbuget; Omer Günhan; Ahmed A Hidayat; Boris Hügle; Mete Isikoglu; Murat Irkec; Shelagh K Joss; Sonja Klebe; Carolin Kneppo; Idil Kurtulus; Rakesh P Mehta; Kemal Ornek; Reinhard Schneppenheim; Stefan Seregard; Elizabeth Sweeney; Stephanie Turtschi; Gabor Veres; Petra Zeitler; Maike Ziegler; Volker Schuster
Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2006-07-18
Journal Detail:
Title:  Blood     Volume:  108     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-23     Completed Date:  2006-11-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3021-6     Citation Subset:  AIM; IM    
Hospital for Children and Adolescents, University of Leipzig, Oststrasse 21-25, D-04317 Leipzig, Germany.
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MeSH Terms
Blood Coagulation Disorders / genetics
Conjunctivitis / etiology,  genetics
Gene Expression Regulation
Heterozygote Detection
Mice, Knockout
Plasminogen / chemistry,  deficiency*,  genetics*,  metabolism
Protein Conformation
Reg. No./Substance:

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