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.
Keywords: Osteoclast, osteoblast, bone remodelling, viral vector, stem cell transplantation, hematopoietic stem cell, engraftment, oc/oc mouse
Current Gene Therapy
Title: Prospects for Gene Therapy of Osteopetrosis
Volume: 9 Issue: 3
Author(s): Maria Askmyr, Carmen Flores, Anders Fasth and Johan Richter
Affiliation:
Keywords: Osteoclast, osteoblast, bone remodelling, viral vector, stem cell transplantation, hematopoietic stem cell, engraftment, oc/oc mouse
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.
Export Options
About this article
Cite this article as:
Askmyr Maria, Flores Carmen, Fasth Anders and Richter Johan, Prospects for Gene Therapy of Osteopetrosis, Current Gene Therapy 2009; 9 (3) . https://dx.doi.org/10.2174/156652309788488613
DOI https://dx.doi.org/10.2174/156652309788488613 |
Print ISSN 1566-5232 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5631 |
Call for Papers in Thematic Issues
Programmed Cell Death Genes in Oncology: Pioneering Therapeutic and Diagnostic Frontiers (BMS-CGT-2024-HT-45)
Programmed Cell Death (PCD) is recognized as a pivotal biological mechanism with far-reaching effects in the realm of cancer therapy. This complex process encompasses a variety of cell death modalities, including apoptosis, autophagic cell death, pyroptosis, and ferroptosis, each of which contributes to the intricate landscape of cancer development and ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Antiepileptic Drugs During Pregnancy: Pharmacokinetics and Transplacental Transfer
Current Pharmaceutical Biotechnology Design Potential Selective Inhibitors for Treating Cancer by Targeting the Src Homology 2 (SH2) Domain-Containing Phosphatase 2 (Shp2) with Core Hopping Approach
Protein & Peptide Letters The Redox Biology of Schistosome Parasites and Applications for Drug Development
Current Pharmaceutical Design Breast Cancer Risks in Premenopausal Women: A Review
Current Women`s Health Reviews Current Clinical Applications of In Vivo Magnetic Resonance Spectroscopy and Spectroscopic Imaging
Current Medical Imaging Emergency Services: A Birds Eye Perspective on the Many Different Functions of Stress Proteins
Current Protein & Peptide Science Idiopathic Transverse Myelitis and Neuromyelitis Optica: Clinical Profiles,Pathophysiology and Therapeutic Choices
Current Neuropharmacology Fibrates in the Chemical Action of Daunorubicin
Current Cancer Drug Targets Preventing and Treating Anthracycline-Related Cardiotoxicity in Survivors of Childhood Cancer
Current Cancer Therapy Reviews Prevalence of Obesity, Hypertension, Diabetes, and Metabolic Syndrome and Its Cardiovascular Complications
Current Hypertension Reviews Variation of Pharmacokinetic Profiles of Some Antidiabetic Drugs from Nanostructured Formulations Administered Through Pulmonary Route
Current Drug Metabolism Main Nutritional and Environmental Risk Factors in Children with Leukemia from a Public Hospital of the State of Guanajuato, Mexico
Current Cancer Therapy Reviews Advanced Techniques for Penetration Enhancement in Transdermal Drug Delivery System
Current Drug Delivery Clinical Use of Rituximab in Patients with HIV Related Lymphoma and Multicentric Castlemans Disease
Current Drug Delivery High-throughput Genotyping Methods for Pharmacogenomic Studies
Current Pharmacogenomics Family Psychoeducation in Clinical High Risk and First-Episode Psychosis
Adolescent Psychiatry Thiopurine S-Methyltransferase as a Pharmacogenetic Biomarker: Significance of Testing and Review of Major Methods
Cardiovascular & Hematological Agents in Medicinal Chemistry Effects of Epirubicin and Cisplatin Against 4T1 Breast Cancer Cells are Enhanced by Myrtucommulone-A
Anti-Cancer Agents in Medicinal Chemistry Targeting Cell Death in Tumors by Activating Caspases
Current Cancer Drug Targets Neurodevelopmental Delay and Intellectual Disability in Pediatric Heart Transplant
Current Psychiatry Reviews