Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

Vandamme, D., Lambert, E., Waterschoot, D., Tondeleir, D., Vandekerckhove, J., Machesky, L. M. , Constantin, B., Rommelaere, H. and Ampe, C. (2009) Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes. BMC Research Notes, 2, 40. (doi: 10.1186/1756-0500-2-40) (PMID:19284548) (PMCID:PMC2657152)

Abstract

Background: Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four different biochemical phenotypes and that expression of NM associated actin mutants in fibroblasts, myoblasts and myotubes induces a range of cellular defects. Findings: We conducted the same biochemical experiments for twelve new actin mutants associated with nemaline myopathy. We observed folding and polymerization defects. Immunostainings of these and eight other mutants in transfected cells revealed typical cellular defects such as nemaline rods or aggregates, decreased incorporation in F-actin structures, membrane blebbing, the formation of thickened actin fibres and cell membrane blebbing in myotubes. Conclusion: Our results confirm that NM associated α-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Machesky, Professor Laura
• Authors: Vandamme, D., Lambert, E., Waterschoot, D., Tondeleir, D., Vandekerckhove, J., Machesky, L. M., Constantin, B., Rommelaere, H., and Ampe, C.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: BMC Research Notes
• Publisher: BioMed Central
• ISSN: 1756-0500
• ISSN (Online): 1756-0500
• Copyright Holders: Copyright © 2009 Ampe et al.
• First Published: First published in BMC Research Notes 2: 40
• Publisher Policy: Reproduced under a Creative Commons License