Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors

Nat Genet. 1997 Jul;16(3):270-6. doi: 10.1038/ng0797-270.

Abstract

Haemophilia B, or factor IX deficiency, is a X-linked recessive disorder that occurs in about one in 25,000 males, and severely affected people are at risk for spontaneous bleeding into numerous organs. Bleeding can be life-threatening or lead to chronic disabilities with haemophilic arthropathy. The severity of the bleeding tendency varies among patients and is related to the concentration of functional plasma factor IX. Patients with 5-30% of the normal factor IX have mild haemophilia that may not be recognized until adulthood or after heavy trauma or surgery. Therapy for acute bleeding consists of the transfusion of clotting-factor concentrates prepared from human blood and recombinant clotting factors that are currently in clinical trials. Both recombinant retroviral and adenoviral vectors have successfully transferred factor IX cDNA into the livers of dogs with haemophilia B. Recombinant retroviral-mediated gene transfer results in persistent yet subtherapeutic concentrations of factor IX and requires the stimulation of hepatocyte replication before vector administration. Recombinant adenoviral vectors can temporarily cure the coagulation defect in the canine haemophilia B model; however, an immune response directed against viral gene products made by the vector results in toxicity and limited gene expression. The use of recombinant adeno-associated virus (rAAV) vectors is promising because the vector contains no viral genes and can transduce non-dividing cells. The efficacy of in vivo transduction of non-dividing cells has been demonstrated in a wide variety of tissues. In this report, we describe the successful transduction of the liver in vivo using r-AAV vectors delivered as a single administration to mice and demonstrate that persistent, curative concentrations of functional human factor IX can be achieved using wild-type-free and adenovirus-free rAAV vectors. This demonstrates the potential of treating haemophilia B by gene therapy at the natural site of factor IX production.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alanine Transaminase / blood
  • Alanine Transaminase / metabolism
  • Animals
  • Cell Division
  • DNA, Antisense / genetics
  • DNA, Antisense / metabolism
  • Dependovirus / genetics*
  • Factor IX / genetics*
  • Factor IX / metabolism
  • Gene Expression
  • Gene Transfer Techniques*
  • Genetic Therapy
  • Genetic Vectors*
  • Hemophilia B / genetics
  • Hemophilia B / therapy*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Liver / metabolism*
  • Mice
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Tyrosine 3-Monooxygenase / genetics
  • Tyrosine 3-Monooxygenase / metabolism

Substances

  • DNA, Antisense
  • RNA, Messenger
  • Factor IX
  • Tyrosine 3-Monooxygenase
  • Alanine Transaminase