Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

Prospects for gene therapy of osteopetrosis.

In English

Författare

  • Maria Askmyr
  • Carmen Flores Bjurström
  • Anders Fasth
  • Johan Richter

Summary, in English

Dysfunction in or lack of osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders characterized by an increase in bone mass, skeletal malformations and bone marrow failure that may be fatal. Several of the underlying defects have lately been characterized in humans and in animal disease models. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast sub-cellular compartment, a process necessary for proper bone resorption. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell transplantation (SCT). However, the characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative to SCT. Recently, gene therapy targeting hematopoietic stem cells (HSC) in a mouse model of infantile malignant osteopetrosis was shown to correct many aspects of the disease. Here we review important aspects of this group of diseases and discuss the prospects for development of gene therapy of osteopetrosis.

Publiceringsår

2009

Språk

Engelska

Sidor

150-159

Publikation/Tidskrift/Serie

Current Gene Therapy

Volym

9

Issue

3

Dokumenttyp

Artikel i tidskrift

Förlag

Bentham Science Publishers

Ämne

  • Hematology

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1566-5232