Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses

Glia. 2000 Jan 15;29(2):182-5. doi: 10.1002/(sici)1098-1136(20000115)29:2<182::aid-glia12>3.3.co;2-b.

Abstract

It has been demonstrated that abnormal levels of PMP22 expression due to altered gene dosage in CMT1A neuropathy alters Schwann cell growth and differentiation. On the other hand, disease-related missense mutations within transmembrane domains of PMP22 disturb intracellular protein trafficking leading to accumulation of the mutant protein in the endoplasmic reticulum/Golgi compartment. Further, the recently reported association of PMP22 and P0 in peripheral myelin sheds new light on the almost identical phenotypes of CMT1A and CMT1B giving rise to a unifying hypothesis on disease mechanism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Communication / genetics
  • Cell Differentiation / genetics
  • Cell Division / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / metabolism
  • Demyelinating Diseases / pathology
  • Gene Expression
  • Humans
  • Mice
  • Mutation, Missense*
  • Myelin P0 Protein / metabolism
  • Myelin Proteins / biosynthesis
  • Myelin Proteins / genetics*
  • Myelin Sheath / metabolism
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / metabolism
  • Protein Structure, Tertiary / genetics
  • Schwann Cells / cytology
  • Schwann Cells / metabolism

Substances

  • Myelin P0 Protein
  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse