Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Acta Neuropathologica Communications
Tamar E SztalRobert J Bryson-Richardson

Abstract

Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible for approximately 50% of nemaline myopathy cases. Despite the severity of the disease there is no effective treatment for nemaline myopathy with limited research to develop potential therapies. Several supplements, including L-tyrosine, have been suggested to be beneficial and consequently self-administered by nemaline myopathy patients without any knowledge of their efficacy. We have characterized a zebrafish model for nemaline myopathy caused by a mutation in nebulin. These fish form electron-dense nemaline bodies and display reduced muscle function akin to the phenotypes observed in nemaline myopathy patients. We have utilized our zebrafish model to test and evaluate four treatments currently self-administered by nemaline myopathy patients to determine their ability to increase skeletal muscle function. Analysis of muscle pathology and locomotion following treatment with L-tyrosine, L-carnitine, taurine, or creatine revealed no significant improvement in skeletal muscle funct...Continue Reading

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Citations

Aug 6, 2020·Biological Procedures Online·Reza Zolfaghari EmamehMajid Khoshmirsafa
Jan 12, 2019·F1000Research·Gianina RavenscroftNigel G Laing
Jun 23, 2019·Journal of Muscle Research and Cell Motility·Caroline A SewryCarina Wallgren-Pettersson
Jan 27, 2020·Journal of Muscle Research and Cell Motility·Michaela Yuen, Coen A C Ottenheijm
Jan 14, 2021·Journal of Biomedical Science·Po-Jui HsuChiou-Hwa Yuh
Dec 12, 2020·Neuromuscular Disorders : NMD·Montse OlivéUNKNOWN ENMC workshop study group
Mar 27, 2021·Clinical Case Reports·Sulaiman AlmobarakCraig Campbell

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Methods Mentioned

BETA
biopsies
PCR
genotyping
electron microscopy
transgenic

Software Mentioned

ZebraLab
GraphPad Prism

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