Phenotypes Induced by NM Causing Alpha-skeletal Muscle Actin Mutants in Fibroblasts, Sol 8 Myoblasts and Myotubes

Overview

Journal BMC Res Notes

Publisher Biomed Central

Specialties Biology
General Medicine

Date 2009 Mar 17

PMID 19284548

Citations 3

Authors

Drieke Vandamme

Ellen Lambert

Davy Waterschoot

Davina Tondeleir

Joel Vandekerckhove

Laura M Machesky

Bruno Constantin

Heidi Rommelaere

Christophe Ampe

Affiliations

Soon will be listed here.

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 alpha-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 alpha-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.

Citing Articles

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.

Pinero-Perez R, Lopez-Cabrera A, Alvarez-Cordoba M, Cilleros-Holgado P, Talaveron-Rey M, Suarez-Carrillo A Antioxidants (Basel). 2023; 12(12).

PMID: 38136143 PMC: 10740811. DOI: 10.3390/antiox12122023.

Mutations in actin, which are equivalent to human cardiomyopathy mutations, cause abnormal actin aggregation in nematode striated muscle.

Hayashi Y, Ono K, Ono S F1000Res. 2019; 8:279.

PMID: 30984387 PMC: 6446495. DOI: 10.12688/f1000research.18476.1.

Dynamic regulation of sarcomeric actin filaments in striated muscle.

Ono S Cytoskeleton (Hoboken). 2010; 67(11):677-92.

PMID: 20737540 PMC: 2963174. DOI: 10.1002/cm.20476.

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