An introduction to the molecular basis of inherited myelin diseases.
The myelin sheath is an extension of a plasma membrane tightly wrapped around axons. It facilitates conduction while conserving space and energy. Myelin is characterized by a high lipid content (80% of dry weight). Most myelin proteins are unique to that structure and some of them are restricted to the central or peripheral nervous system. In this review a few examples of inherited metabolic disorders affecting the oligodendrocyte and/or the Schwann cells are presented. Emphasis is placed on mutations in animals that represent invaluable models for investigating the molecular mechanisms of inherited myelin diseases in humans.
Matthieu
J M
JM
Service de Pédiatrie, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
D000818:Animals; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008055:Lipids / Q000032:analysis; D009154:Mutation; D004676:Myelin Basic Protein / Q000032:analysis / Q000235:genetics; D009185:Myelin Proteins / Q000032:analysis / Q000235:genetics; D018991:Myelin Proteolipid Protein; D009186:Myelin Sheath / Q000737:chemistry / Q000473:pathology / Q000502:physiology
D008055:Lipids; D004676:Myelin Basic Protein; D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein