抄録
Human scoliosis is a disease that is characterized by deformities of axial spine beyond the limits of normal curvature and classified into three types. Among them, congenital scoliosis has abnormal shape of vertebrae congenitally with malalignment of axial spine. The genetic background and key gene for congenital kyphoscoliosis has not yet been clarified. Ishibashi rats (IS) have congenital malformations of lumbar vertebrae leading to kyphoscoliosis similar to that seen in human. Analysis of IS may thus provide insights into the genetic causes of human congenital scoliosis. In the present study, we characterized malformations of lumbar vertebrae in IS and screened for the difference of gene expression involved in skeletal formation between IS and Wistar strain rats. Significant differences on skeletal structures between IS and Wistar were found by roentogenographic analysis: (1) transitional vertebra; (2) anterior wedged vertebra; (3) union of anterior limbs; (4) an additional vertebra (7th lumbar vertebra).
Furthermore, we designed probes for gene analysis of congenital kyphoscoliosis in IS. Hox10 and 11 paralogues play critical roles in the determination of characteristics of lumbar and sacral vertebrae. Shh, Notch1, Pax1, Pax9, Bapx1, Sox9, Col2α1, and Scleraxis may be involved in formation of axial skelton from unsegmented mesoderm. Analyses of these genes in IS by in situ hybridization and quantitative RT-PCR are under investigation. [Jpn J Physiol 54 Suppl:S225 (2004)]
