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• W2021740909 abstract "Laing distal myopathy (MPD1) is a genetically dominant myopathy characterized by early and selective weakness of the distal muscles. Mutations in the MYH7 gene encoding for the β-myosin heavy chain are the underlying genetic cause of MPD1. However, their pathogenic mechanisms are currently unknown. Here, we measure the biological effects of the R1500P and L1706P MPD1 mutations in different cellular systems. We show that, while the two mutations inhibit myosin self-assembly in non-muscle cells, they do not prevent incorporation of the mutant myosin into sarcomeres. Nevertheless, we find that the L1706P mutation affects proper antiparallel myosin association by accumulating in the bare zone of the sarcomere. Furthermore, bimolecular fluorescence complementation assay shows that the α-helix containing the R1500P mutation folds into homodimeric (mutant/mutant) and heterodimeric [mutant/wild type (WT)] myosin molecules that are competent for sarcomere incorporation. Both mutations also form aggregates consisting of cytoplasmic vacuoles surrounding paracrystalline arrays and amorphous rod-like inclusions that sequester WT myosin. Myosin aggregates were also detected in transgenic nematodes expressing the R1500P mutation. By showing that the two MPD1 mutations can have dominant effects on distinct components of the contractile apparatus, our data provide the first insights into the pathogenesis of the disease." @default.
• W2021740909 created "2016-06-24" @default.
• W2021740909 creator A5072562908 @default.
• W2021740909 creator A5073434135 @default.
• W2021740909 creator A5085095319 @default.
• W2021740909 date "2012-02-01" @default.
• W2021740909 modified "2023-10-16" @default.
• W2021740909 title "Effects of Pathogenic Proline Mutations on Myosin Assembly" @default.
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• W2021740909 doi "https://doi.org/10.1016/j.jmb.2011.11.042" @default.
• W2021740909 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3267876" @default.
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• W2021740909 hasPublicationYear "2012" @default.
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