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

Bauke Kogelman, Artem Khmelinskii, Ingrid Verhaart, Laura van Vliet, Diewertje I. Bink, Annemieke Aartsma-Rus, Maaike van Putten, Louise van der Weerd

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Abstract

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 full-length 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-XistΔhs). While absence or low amounts of full-length dystrophin did not significantly affect whole brain volume and skull morphology, we found differences in volume of individual brain structures. The 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.
Original languageEnglish
Article number0194636
JournalPLOS ONE
Volume13
Issue number3
DOIs
Publication statusPublished - 30 Mar 2018

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