Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

Rosanna Asselta, Anna Bossone, Luigi Iannoccone, Stefano Duga, Vincenzo Brancaccio, Maurizio Margaglione

Research output: Contribution to journalArticle

Abstract

A 60-year-old Italian woman presenting with factor V Leiden mutation but a normal activated protein C (APC) resistance, low functional and antigenic factor (FV) plasma levels, was found to have a novel heterozygous Gly2032Asp substitution located on the same allele. In transfected cells, the Gly2032Asp mutation caused an approximately 2-fold reduction of the intracellular FV protein and a 9-fold reduction of the secreted protein, suggesting that the Gly2032Asp substitution acts in cis on the allele carrying the FV Leiden mutation and rescues the APC-resistance phenotype.

Original languageEnglish
Pages (from-to)761-762
Number of pages2
JournalHaematologica
Volume89
Issue number6
Publication statusPublished - Jun 2004

Fingerprint

Activated Protein C Resistance
Factor V
Phenotype
Mutation
Alleles
Proteins
factor V Leiden

Keywords

  • Activated protein C
  • Factor V Leiden
  • Mutation

ASJC Scopus subject areas

  • Hematology

Cite this

Asselta, R., Bossone, A., Iannoccone, L., Duga, S., Brancaccio, V., & Margaglione, M. (2004). Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. Haematologica, 89(6), 761-762.

Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. / Asselta, Rosanna; Bossone, Anna; Iannoccone, Luigi; Duga, Stefano; Brancaccio, Vincenzo; Margaglione, Maurizio.

In: Haematologica, Vol. 89, No. 6, 06.2004, p. 761-762.

Research output: Contribution to journalArticle

Asselta, R, Bossone, A, Iannoccone, L, Duga, S, Brancaccio, V & Margaglione, M 2004, 'Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation', Haematologica, vol. 89, no. 6, pp. 761-762.
Asselta R, Bossone A, Iannoccone L, Duga S, Brancaccio V, Margaglione M. Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. Haematologica. 2004 Jun;89(6):761-762.
Asselta, Rosanna ; Bossone, Anna ; Iannoccone, Luigi ; Duga, Stefano ; Brancaccio, Vincenzo ; Margaglione, Maurizio. / Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. In: Haematologica. 2004 ; Vol. 89, No. 6. pp. 761-762.
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