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Prospects for gene therapy of osteopetrosis.

Askmyr, Maria LU ; Flores Bjurström, Carmen LU ; Fasth, Anders and Richter, Johan LU (2009) In Current Gene Therapy 9(3). p.150-159
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Current Gene Therapy
volume
9
issue
3
pages
150 - 159
publisher
Bentham Science Publishers
external identifiers
  • wos:000267013800001
  • pmid:19519360
  • scopus:70349564800
ISSN
1566-5232
language
English
LU publication?
yes
id
ee529eef-736d-4a65-821a-78a6a6b4e92f (old id 1434315)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/19519360?dopt=Abstract
date added to LUP
2009-07-03 15:48:00
date last changed
2017-09-03 04:51:23
@article{ee529eef-736d-4a65-821a-78a6a6b4e92f,
  abstract     = {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.},
  author       = {Askmyr, Maria and Flores Bjurström, Carmen and Fasth, Anders and Richter, Johan},
  issn         = {1566-5232},
  language     = {eng},
  number       = {3},
  pages        = {150--159},
  publisher    = {Bentham Science Publishers},
  series       = {Current Gene Therapy},
  title        = {Prospects for gene therapy of osteopetrosis.},
  volume       = {9},
  year         = {2009},
}