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

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-Xist?hs). 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.

SUBMITTER: Kogelman B

PROVIDER: S-EPMC5877835 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Kogelman Bauke B Khmelinskii Artem A Verhaart Ingrid I Vliet Laura van LV Bink Diewertje I DI Aartsma-Rus Annemieke A Putten Maaike van MV Weerd Louise van der LV

PloS one 20180330 3

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 ...[more]

PMID: 29601589

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