Correlative Light and Electron Microscopy for the Investigation of Muscle Disease

<div>In order to investigate the biology of nemaline myopathy, a muscle disease characterised by the formation of nemaline (rod-like) aggregates, we created a zebrafish model.  To generate the model we expressed a disease causing form of ACTA1 (ACTA1D286G) tagged with enhanced green fluorescent protein within the muscle. This allowed the visualisation of disease onset and progression in the living animal. This led to the discovery of how and where the characteristic aggregates form. In order to confirm that the fluorescent aggregates observed in the fish corresponded to those observed in patients using electron microscopy we carried out correlative light and electron microscopy on the zebrafish disease model. This allowed visualisation of both the fluorescent protein and the electron dense aggregates. The raw data from these experiments are provided.</div

Additional file 1: of Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Supplementary data for Testing of therapies in a novel nebulin nemaline myopathy model demonstrates and lack of efficacy. Figure S1: Characterisation of Tg(neb-/-; Lifeact-eGFP) fish. Figure S2-S4: Toxicity analyses for treatment of wildtype zebrafish with taurine, L-carnitine and creatine. Figure S5-S6: Quantification of distance travelled and average speed at 6 dpf. Figure S7: Quantification of the phenotypic severity at 6 dpf. Figure S8: Characterisation of facial muscles at 6 dpf. (PDF 7847 kb