Jones Donna Carlson, Zelditch Miriam L, Peake Paula Lightfoot, German Rebecca Z
Department of Physical Medicine and Rehabilitation, The Johns Hopkins University, Baltimore, Maryland 21287, USA.
J Anat. 2007 Jun;210(6):723-30. doi: 10.1111/j.1469-7580.2007.00730.x. Epub 2007 Apr 25.
Skeletal anomalies are common in patients with muscular dystrophy, despite an absence of mutations to genes that specifically direct skeletogenesis. In order to understand these anomalies further, we examined two strains of muscular dystrophy (laminin- and merosin-deficient) relative to controls, to determine how the weakened muscle forces affected skull shape in a mouse model. Shape was characterized with geometric morphometric techniques, improving upon the limited analytical power of the standard linear measurements. Through these techniques, we document the specific types of cranial skeletal deformation produced by the two strains, each with individual shape abnormalities. The mice with merosin deficiency (with an earlier age of onset) developed skulls with more deformation, probably related to the earlier ontogenetic timing of disease onset. Future examinations of these mouse models may provide insight regarding the impact of muscular forces and the production and maintenance of craniofacial integration and modularity.
骨骼异常在肌肉萎缩症患者中很常见,尽管没有发现专门指导骨骼生成的基因突变。为了进一步了解这些异常情况,我们相对于对照组检查了两种肌肉萎缩症菌株(层粘连蛋白和merosin缺陷型),以确定在小鼠模型中减弱的肌肉力量如何影响颅骨形状。通过几何形态测量技术对形状进行了表征,克服了标准线性测量分析能力有限的问题。通过这些技术,我们记录了两种菌株产生的颅骨骨骼变形的具体类型,每种都有各自的形状异常。merosin缺乏的小鼠(发病年龄较早)颅骨变形更严重,这可能与疾病发病的个体发育时间较早有关。对这些小鼠模型的进一步研究可能会为肌肉力量的影响以及颅面整合和模块化的产生与维持提供见解。