RT Journal Article
T1 High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
A1 Bernal, Sara
A1 Pelaez, Irene
A1 Alias, Laura
A1 Baena, Manel
A1 De Pablo-Moreno, Juan A
A1 Serrano, Luis J
A1 Camero, M Dolores
A1 Tizzano, Eduardo F
A1 Berrueco, Ruben
A1 Liras, Antonio
K1 Owren’s disease
K1 advanced therapies
K1 factor V deficiency
K1 mutation analysis
K1 parahemophilia
AB Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originates in the α-granules of platelets. In humans, the factor V gene is about 80 kb in size; it is located on chromosome 1q24.2, and its cDNA is 6914 bp in length. Furthermore, nearly 190 mutations have been reported in the gene. Factor V deficiency is an autosomal recessive coagulation disorder associated with mutations in the factor V gene. This hereditary coagulation disorder is clinically characterized by a heterogeneous spectrum of hemorrhagic manifestations ranging from mucosal or soft-tissue bleeds to potentially fatal hemorrhages. Current treatment of this condition consists in the administration of fresh frozen plasma and platelet concentrates. This article describes the cases of two patients with severe factor V deficiency, and of their parents. A high level of mutational heterogeneity of factor V gene was identified, nonsense mutations, frameshift mutations, missense changes, synonymous sequence variants and intronic changes. These findings prompted the identification of a new mutation in the human factor V gene, designated as Jaén-1, which is capable of altering the procoagulant function of factor V. In addition, an update is provided on the prospects for the treatment of factor V deficiency on the basis of yet-to-be-developed recombinant products or advanced gene and cell therapies that could potentially correct this hereditary disorder.
YR 2021
FD 2021-09-08
LK https://hdl.handle.net/10668/26316
UL https://hdl.handle.net/10668/26316
LA en
DS RISalud
RD Apr 8, 2025