Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation

Anna Villa, Alessandra Pangrazio, Elena Caldana, Matteo Guerrini, Paolo Vezzoni, Annalisa Frattini, Cristina Sobacchi

Research output: Contribution to journalArticle

Abstract

Hematopoietic stem cell transplantation (HSCT) is often the only practical approach to fatal genetic defects. One of the first pathologies which HSCT was applied to was Autosomal Recessive Osteopetrosis (ARO), a rare genetic bone disease in which a deficit in bone resorption by osteoclasts leads to increased bone density and secondary defects. The disease is often lethal early in life unless treated with HSCT. In utero transplantation (IUT) of the oc/oc mouse, reproducing the clinical features of a subset of ARO, has demonstrated that the quality of life and the survival of transplanted animals are greatly improved, suggesting that a similar protocol could be applied to humans. However, recently the dissection of the molecular bases of the disease has shown that ARO is genetically heterogeneous and has revealed the presence of subsets of patients which do not benefit from HSCT. This observation highlights the importance of molecular diagnosing ARO to identify and establish the proper therapies for a better prognosis. In particular, on the basis of experimental results in murine models, efforts should be undertaken to develop approaches such as IUT and new pharmacological strategies.

Original languageEnglish
Pages (from-to)57-62
Number of pages6
JournalCytotechnology
Volume58
Issue number1
DOIs
Publication statusPublished - Sep 2008

Keywords

  • Differentiation
  • Osteoclast
  • Stem cells
  • Transplantation

ASJC Scopus subject areas

  • Cell Biology
  • Biotechnology
  • Biomedical Engineering
  • Bioengineering
  • Clinical Biochemistry

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