Gawlik Kinga I, Durbeej Madeleine
Muscle Biology Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Front Mol Neurosci. 2020 Apr 21;13:59. doi: 10.3389/fnmol.2020.00059. eCollection 2020.
The research on laminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD) advanced rapidly in the last few decades, largely due to availability of good mouse models for the disease and a strong interest in preclinical studies from scientists all over the world. These mouse models continue to provide a solid platform for understanding the LAMA2-CMD pathology. In addition, they enable researchers to test laborious, necessary routines, but also the most creative scientific approaches in order to design therapy for this devastating disorder. In this review we present animals belonging to the laminin α2 chain-deficient "" mouse family (, / , / , / , et al.) and a summary of the scientific progress they facilitated. We also raise a few questions that need to be addressed in order to maximize the usefulness of laminin α2 murine mutants and to further advance the LAMA2-CMD studies. We believe that research opportunities offered by the mouse models for LAMA2-CMD will continuously support our efforts to find a treatment for the disease.
在过去几十年中,层粘连蛋白α2链缺陷型先天性肌营养不良(LAMA2-CMD)的研究进展迅速,这很大程度上得益于该疾病良好小鼠模型的可得性以及全球科学家对临床前研究的浓厚兴趣。这些小鼠模型继续为理解LAMA2-CMD病理学提供坚实的平台。此外,它们使研究人员能够测试繁琐但必要的常规方法,也能测试最具创造性的科学方法,以便为这种毁灭性疾病设计治疗方案。在本综述中,我们介绍了属于层粘连蛋白α2链缺陷型“小鼠家族”(、/、/、等)的动物,以及它们所推动的科学进展总结。我们还提出了一些需要解决的问题,以便最大限度地利用层粘连蛋白α2小鼠突变体,并进一步推进LAMA2-CMD研究。我们相信,LAMA2-CMD小鼠模型提供的研究机会将持续支持我们寻找该疾病治疗方法的努力。