Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy

PloS One
S Pasteuning-VuhmanM van Putten

Abstract

Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials. Therefore, in the present study, we collected natural history data and assessed pre-clinical outcome measures for the dy2J/dy2J mouse model using standardized operating procedures available from the TREAT-NMD Alliance. Wild type and dy2J/dy2J mice were subjected to five different functional tests from the age of four to 32 weeks. Non-tested control groups were taken along to assess whether the functional test regime interfered with muscle pathology. Respiratory function, body weights and creatine kinase levels were recorded. Lastly, skeletal muscles were collected for further histopathological and gene expression analyses. Muscle function of dy2J/dy2J mice was severely impaired at four weeks of age and all mice...Continue Reading

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Citations

Apr 1, 2020·Disease Models & Mechanisms·Maaike van PuttenMiranda D Grounds
May 28, 2020·Frontiers in Molecular Neuroscience·Kinga I Gawlik, Madeleine Durbeej

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Methods Mentioned

BETA
PCR

Software Mentioned

ImageJ
AXOSCOPE
TREAT
Clampfit
Prism
NMD
SPSS
GraphPad

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