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

 Rojin Park  ;  Hyun-Ju Doh  ;  Seong-Soo A. An  ;  Jong-Rak Choi  ;  Kwang-Hoe Chung  ;  Kyung-Soon Song 
 BLOOD, Vol.108(6) : 1919-1924, 2006 
Journal Title
Issue Date
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
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.
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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
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