Prospects for gene therapy of osteopetrosis.

• 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Immunology in the medical area (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

Nyckelord

Animals

Bone Remodeling

drug effects

genetics

Gene Therapy

trends

Hematopoietic Stem Cells

drug effects

Humans

Mice

Osteoclasts

drug effects

pathology

Osteopetrosis

genetics

pathology

therapy

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