PDF(Pubmed)
Abstract：
Duchenne muscular dystrophy is a severe neuromuscular disorder that is caused by mutations in the DMD gene, resulting in a disruption of dystrophin production. Next to dystrophin expression in the muscle, different isoforms of the protein are also expressed in the brain and lack of these isoforms leads to cognitive and behavioral deficits in patients. It remains unclear how the loss of the shorter dystrophin isoform Dp140 affects these processes. Using a variety of behavioral tests, we found that mdx and mdx4cv mice (which lack Dp427 or Dp427 + Dp140, respectively) exhibit similar deficits in working memory, movement patterns and blood-brain barrier integrity. Neither model showed deficits in spatial learning and memory, learning flexibility, anxiety or spontaneous behavior, nor did we observe differences in aquaporin 4 and glial fibrillary acidic protein. These results indicate that in contrast to Dp427, Dp140 does not play a crucial role in processes of learning, memory and spontaneous behavior.
摘要：
Duchenne肌营养不良症是一种严重的神经肌肉疾病，由DMD基因突变引起，导致肌养蛋白生产中断。除了肌肉中的肌营养不良蛋白表达，该蛋白的不同同工型也在脑中表达，这些同工型的缺乏会导致患者的认知和行为缺陷。尚不清楚较短的肌营养不良蛋白同工型Dp140的丢失如何影响这些过程。使用各种行为测试，我们发现mdx和mdx4cv小鼠（分别缺乏Dp427或Dp427+Dp140）在工作记忆方面表现出相似的缺陷，运动模式和血脑屏障完整性。这两个模型都没有表现出空间学习和记忆的缺陷，学习的灵活性，焦虑或自发行为，我们也没有观察到水通道蛋白4和胶质纤维酸性蛋白的差异。这些结果表明，与Dp427相比，Dp140在学习过程中不发挥关键作用。记忆和自发行为。
