Abstract #4459

Effect of dystrophin levels on brain volumes in Duchenne muscular dystrophy mouse models

Bauke Kogelman¹, Artem Khmelinskii^2,3, Maaike van Putten⁴, and Louise van der Weerd^1,4

¹Department of Radiology, Leiden University Medical Center, Leiden, Netherlands, ²Division of Image Processing, Dept. of Radiology, Leiden University Medical Center, Leiden, Netherlands, ³Percuros B.V., Enschede, Netherlands, ⁴Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands

Besides muscle, Duchenne muscular dystrophy also affects the brain, resulting in memory and behavior problems. The consequences of dystrophinopathy on gross macroscopic alterations in the mouse brain are unclear. We used a number of mouse models that express either 0%(mdx), 100%(Bl10-WT) or a low amount of dystrophin(mdx-Xist∆hs). We showed that while whole brain volume does not significantly differ between mdx and Bl10-WT mice, there are differences in volumes of individual brain substructures. These results are in line with human data, where brain volume was found to be reduced only in patients lacking both full-length dystrophin and the shorter isoform Dp140.

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