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A novel fibrinogen variant (fibrinogen Seoul II; AαGln328Pro) characterized by impaired fibrin α-chain cross-linking

Authors
 Rojin Park  ;  Hyun-Ju Doh  ;  Seong-Soo A. An  ;  Jong-Rak Choi  ;  Kwang-Hoe Chung  ;  Kyung-Soon Song 
Citation
 BLOOD, Vol.108(6) : 1919-1924, 2006 
Journal Title
 BLOOD 
ISSN
 0006-4971 
Issue Date
2006
MeSH
Adult ; Afibrinogenemia/blood ; Afibrinogenemia/genetics ; Aged ; Amino Acid Substitution ; Binding Sites ; Blood Coagulation Disorders, Inherited/blood ; Blood Coagulation Disorders, Inherited/genetics ; Child ; Cross-Linking Reagents ; Factor XIIIa/metabolism ; Female ; Fibrinogens, Abnormal/chemistry* ; Fibrinogens, Abnormal/genetics* ; Fibrinogens, Abnormal/metabolism ; Heterozygote ; Humans ; In Vitro Techniques ; Male ; Microscopy, Electron, Scanning ; Middle Aged ; Multiprotein Complexes ; Point Mutation ; Tissue Plasminogen Activator/adverse effects
Abstract
We report a novel fibrinogen variant (fibrinogen Seoul II), which has a heterozygous point mutation from CAA to CCA leading to AαGln328Pro. The mutation site is among several glutamine residues that serve as α-chain cross-linking acceptor sites. Fibrinogen Seoul II was found in a 51-year-old male patient and his family in Seoul, Korea. The patient was diagnosed with myocardial infarction at age 43. Eight years later he was admitted to the emergency room due to recurrence of the disease, where he expired under treatment with tissue plasminogen activator (t-PA). Fibrin polymerization curves, made using purified fibrinogen from the patient's relatives, showed a decreased final turbidity, suggesting Seoul II fibrin clots are composed of thinner fibers. This supposition was verified using scanning electron microscopy. Alpha-polymer formation by the mutant fibrinogen upon thrombin treatment in the presence of factor XIII and calcium was distinctly impaired. This result confirms that the residue Aα328 plays a pivotal role in α-chain cross-linking.
Files in This Item:
T200600268.pdf Download
DOI
10.1182/blood-2005-11-007591
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Song, Kyung Soon(송경순)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109073
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