Aberrant regulation of bone trace elements in motheaten and osteopetrosis mutant mice.
Increasing numbers of genetic diseases involving bone development and models for these diseases have been identified recently. Analysis of these bone diseases have revealed that regulated action of multiple growth factors and subsequent signal transduction are essential for normal bone formation. In this paper, two murine mutant mice viable motheaten and osteopetrosis are analyzed. Mice with the recessive 'viable motheaten' mutation express a severe immunodeficiency syndrome and bone defects. Mutations at the motheaten locus were shown to be the result of aberrant splicing of the gene encoding hematopoietic cell phosphatase (Hcph). Mice homozygous for the osteopetrosis mutation develop congenital 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 trace element composition in viable motheaten and osteopetrosis mutant animal models in this study. In order to gain insights into the effects of particular genetic defects on bone trace element composition, inductively coupled plasma atomic emissions spectrometry (ICP-AES) analysis was performed. Marked changes in bone trace element levels were found in limb bones of viable motheaten and osteopetrosis mutant mice. An assessment of these trace element spectrum in the two mutant models with respect to each genetic defects are discussed in this paper.
Yamada
G
G
Research Center for Innovative Cancer Therapy, Kurume University, Fukuoka, Japan.
Nakamura
S
S
Haraguchi
R
R
Sakai
M
M
Suzuki
K
K
Miyado
K
K
Hasuwa
H
H
Ogino
Y
Y
Minami
T
T
Tohno
Y
Y
Blum
M
M
Shultz
L D
LD
D000818:Animals; D001842:Bone and Bones / Q000378:metabolism*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins; D016173:Macrophage Colony-Stimulating Factor / Q000172:deficiency / Q000235:genetics; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008817:Mice, Mutant Strains; D010010:Osteoclasts / Q000378:metabolism; D010022:Osteopetrosis / Q000235:genetics / Q000378:metabolism*; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000502:physiology; D014131:Trace Elements / Q000378:metabolism*; D015032:Zinc / Q000378:metabolism
D047908:Intracellular Signaling Peptides and Proteins; D014131:Trace Elements; D016173:Macrophage Colony-Stimulating Factor; D016186:Receptor, Macrophage Colony-Stimulating Factor; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases; C509248:Ptpn6 protein, mouse; D015032:Zinc