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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
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Journal Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
2007
Overview
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (
MTM1
)
1
, whereas mutations in dynamin 2 (
DNM2
) have been found in some autosomal dominant cases
2
. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (
BIN1
) in three families with autosomal recessive inheritance. Two missense mutations affecting the BAR (Bin1/amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, and a partial truncation of the C-terminal SH3 domain abrogates the interaction with DNM2 and its recruitment to the membrane tubules. Our results suggest that mutations in
BIN1
cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biochemistry, Molecular Biology
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Green Fluorescent Proteins - genetics
/ Green Fluorescent Proteins - metabolism
/ Humans
/ letter
/ Male
/ Mice
/ Muscular Diseases - genetics
/ Muscular Diseases - metabolism
/ Muscular Diseases - pathology
/ Mutation
/ Nerve Tissue Proteins - genetics
/ Nerve Tissue Proteins - metabolism
/ Polymorphism, Single Nucleotide
