Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) affects besides muscle also the brain, resulting in memory and behavioral problems. The consequences of dystrophinopathy on gross macroscopic alterations are unclear. To elucidate the effect of dystrophin expression on brain morphology, we used high-resolution post-mortem MRI in mouse models that either express 0% (mdx), 100% (BL10) or a low amount of full-length dystrophin (mdx-Xist∆hs). While absence or low amounts of dystrophin did not result in significantly different whole brain volume and skull morphology, we found differences in volume of individual brain structures. The found results are in line with observations in humans, where whole brain volume was found to be reduced only in patients lacking both full-length dystrophin and the shorter isoform Dp140.