Idiopathic-type scoliosis is not exclusive to bipedalism.
Idiopathic-type scoliosis is not exclusive to bipedalism.
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DOI：
10.1016/j.mehy.2008.09.052
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发表时间：
2009-03
影响因子：
4.7
通讯作者：
Breden, Felix
中科院分区：
文献类型：
--
作者：
Gorman, Kristen F.;Breden, Felix
人类家族性/特发性脊柱侧凸（IS）是一种病因不明的复杂遗传性疾病。曲线表型典型地表现出明显的形态和发育变异性，这可能是个体之间生物力学、环境和遗传差异的结果。此外，影响曲线进展至严重程度倾向的风险因素未知。由于缺乏遗传/发育动物模型，对特发性脊柱侧凸基础生物学的理解进展受到限制。在考虑硬骨鱼之前，发育特发性脊柱侧凸被认为是人类独有的。因此，有一种观点认为这种综合征是两足动物的结果，许多研究试图从这种人类中心主义的观点来解释这种畸形。这一观点已被用于研究的动物的选择所加强，因为鸡和两足大鼠和小鼠在褪黑激素缺乏时表现出特发性弯曲，但四足动物则没有。被忽视的事实是，硬骨鱼也表现出类似的曲率时，褪黑激素缺乏。我们的孔雀鱼曲线的表征表明，非诱导的特发性类型的曲率是不是人类独有的，也不是两足动物。我们推测，人类和孔雀鱼综合征之间独特的形态，发育和遗传相似之处是由于共同的分子途径参与两种表型的发病机制。我们探讨了人类和硬骨鱼基因组之间的基因保守性，这些基因保守性是在假设参与IS综合征的途径中。我们提出非诱导的椎骨楔入作为IS和后弯的一个独特的共同特征，这表明在椎骨解剖学水平上的分子表型和生物力学之间存在类似的相互作用。我们认为，特发性脊柱侧弯的表现取决于沿着头尾轴施加的正常脊柱载荷，而不是两足行走本身，该载荷与导致主要弯曲的未知因素相互作用。在这方面，使用简化硬骨鱼模型的比较生物学方法将促进硬骨鱼和人类特发性脊柱侧凸的基本过程的发现，并突出畸形的人类特异性方面。
Human familial/idiopathic-type scoliosis (IS) is a complex genetic disorder for which the cause is unknown. The curve phenotype characteristically demonstrates pronounced morphological and developmental variability that is likely a consequence of biomechanical, environmental, and genetic differences between individuals. In addition, risk factors that affect the propensity for curves to progress to severity are unknown. Progress in understanding the fundamental biology of idiopathic-type scoliosis has been limited by the lack of a genetic/developmental animal model. Prior to consideration of teleosts, developmental idiopathic-type scoliosis has been considered to be exclusive to humans. Consequently, there is the notion that the syndrome is a result of bipedalism, and many studies try to explain the deformity from this anthrocentric viewpoint. This perspective has been reinforced by the choice of animals used for study, in that chickens and bipedal rats and mice demonstrate idiopathic-type curvature when made melatonin deficient, but quadrupedal animals do not. Overlooked is the fact that teleosts also demonstrate similar curvature when made melatonin-deficient. Our characterization of the guppy curveback has demonstrated that non-induced idiopathic-type curvature is not exclusive to humans, nor bipedalism. We hypothesize that unique morphological, developmental and genetic parallels between the human and guppy syndromes are due to common molecular pathways involved in the etiopathogenesis of both phenotypes. We explore established gene conservation between human and teleost genomes that are in pathways hypothesized to be involved in the IS syndrome. We present non-induced vertebral wedging as a unique shared feature in IS and curveback that suggests a similar interaction between a molecular phenotype on the level of the vertebral anatomy, and biomechanics. We propose that rather than bipedalism per se, expression of idiopathic-type scoliosis is dependent on normal spinal loading applied along the cranio-caudal axis that interacts with an unknown factor causing the primary curve. In this regard, a comparative biological approach using a simplified teleost model will promote discovery of basic processes integral to idiopathic-type scoliosis in teleosts and humans, and highlight human-specific aspects of the deformity.
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