ABERRANT REGULATION OF BONE TRACE-ELEMENTS IN MOTH-EATEN AND OSTEOPETROSIS MUTANT MICE

Increasing numbers of genetic diseases involving bone development and models for these diseases have been identified recently. Analysis of t hese bone diseases have revealed that regulated action of multiple gro wth factors and subsequent signal transduction are essential for norma l bone formation. In this paper, two murine mutant mice viable motheat en and osteopetrosis are analyzed. Mice with the recessive 'viable mot heaten' mutation express a severe immunodeficiency syndrome and bone d efects. Mutations at the motheaten locus were shown to be the result o f aberrant splicing of the gene encoding hematopoietic cell phosphatas e (Hcph). Mice homozygous for the osteopetrosis mutation develop conge nital osteopetrosis due to a severe deficiency of osteoclasts. It has been recognized that bone trace element composition analysis helps to define bone-related physiological conditions. We have analyzed bone tr ace element composition in viable motheaten and osteopetrosis mutant a nimal models in this study. In order to gain insights into the effects of particular genetic defects on bone trace element composition, indu ctively coupled plasma atomic emissions spectrometry (ICP-AES) analysi s was performed. Marked changes in bone trace element levels were foun d in limb bones of viable motheaten and osteopetrosis mutant mice. An assessment of these trace element spectrum in the two mutant models wi th respect to each genetic defects are discussed in this paper.