Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

Brain. 2012 May;135(Pt 5):1395-411. doi: 10.1093/brain/aws061. Epub 2012 Mar 26.

Abstract

Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy. In this study, we aimed to elucidate the disease mechanisms in dominant intermediate Charcot-Marie-Tooth neuropathy type B and to find explanations for the tissue-specific defects that are associated with different DNM2 mutations in dominant intermediate Charcot-Marie-Tooth neuropathy type B versus autosomal dominant centronuclear myopathy. We used tissue derived from Dnm2-deficient mice to establish an appropriate peripheral nerve model and found that dominant intermediate Charcot-Marie-Tooth neuropathy type B-associated dynamin 2 mutants, but not autosomal dominant centronuclear myopathy mutants, impaired myelination. In contrast to autosomal dominant centronuclear myopathy mutants, Schwann cells and neurons from the peripheral nervous system expressing dominant intermediate Charcot-Marie-Tooth neuropathy mutants showed defects in clathrin-mediated endocytosis. We demonstrate that, as a consequence, protein surface levels are altered in Schwann cells. Furthermore, we discovered that myelination is strictly dependent on Dnm2 and clathrin-mediated endocytosis function. Thus, we propose that altered endocytosis is a major contributing factor to the disease mechanisms in dominant intermediate Charcot-Marie-Tooth neuropathy type B.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Protein Complex 2 / genetics
  • Adaptor Protein Complex 2 / metabolism
  • Animals
  • Cell Differentiation / drug effects
  • Cell Differentiation / genetics
  • Cells, Cultured
  • Clathrin / pharmacology*
  • Culture Media, Serum-Free / pharmacology
  • Dynamin II / genetics*
  • Embryo, Mammalian
  • Endocytosis / drug effects
  • Endocytosis / physiology*
  • Flow Cytometry
  • Ganglia, Spinal / cytology
  • Gene Expression Regulation / drug effects
  • Gene Expression Regulation / genetics*
  • Gene Knockdown Techniques
  • Green Fluorescent Proteins / genetics
  • Humans
  • Integrin beta1 / metabolism
  • Mice
  • Mice, Transgenic
  • Mutation / genetics*
  • Myelin Basic Protein / metabolism
  • Neurofilament Proteins / metabolism
  • Neurons / drug effects
  • Neurons / physiology*
  • Protein Transport / genetics
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / metabolism
  • Rats
  • Receptor, ErbB-2 / metabolism
  • Schwann Cells / drug effects
  • Schwann Cells / metabolism
  • Time Factors
  • Transfection
  • Transferrin / metabolism

Substances

  • Adaptor Protein Complex 2
  • Clathrin
  • Culture Media, Serum-Free
  • Integrin beta1
  • Myelin Basic Protein
  • Neurofilament Proteins
  • RNA, Small Interfering
  • Transferrin
  • enhanced green fluorescent protein
  • Green Fluorescent Proteins
  • Erbb2 protein, mouse
  • Receptor, ErbB-2
  • Dynamin II