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.
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Hudson LD (1990) Molecular genetics of X-linked mutants In Duncan ID, Skoff RP, Colman D, eds.Myelination and Dysmyelination; Ann NY Acad Sci 605: 155–165.
Kirschner DA, Ganser AL, Caspar DLD (1984) Diffraction studies of molecular organization and membrane interactions in myelin. In Morell P, ed.Myelin, 2nd edn. New York: Plenum Press, 51–95.
Lemke G (1988) Unwrapping the genes of myelin.Neuron 1: 535–543.
Li S, Crenshaw EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain genepit-1.Nature 347: 528–533.
Matsunami N, Smith B, Ballard L et al (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.Nature Genet 1: 176–179.
Matthieu J-M, Tosic M, Roach A (1992) Myelin deficient mutant mice. Anin vivo model for inhibition of gene expression by natural antisense RNA. In Baserga DT, Denhardt DT, eds.Antisense Strategies;Ann NY Acad Sci 660: 188–193.
Miklossy J, Van der Loos H (1991) The long distance effects of brain lesions: visualization of myelinated pathways in the human brain using polarizing and fluorescence microscopy.J Neuropathol Exp Neurol 50: 1–15.
Patel PI, Roa BB, Welcher AA et al (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.Nature Genet 1: 159–165.
Pfäffle RW, Di Mattia GE, Parks JS et al (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.Science 257: 1118–1121.
Raine CS (1984) The neuropathology of myelin diseases. In Morell P, ed.Myelin, 2nd edn. New York: Plenum Press, 259–310.
Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.Science 257: 1115–1118.
Suter U, Welcher AA, Özcelik T (1992)Trembler mouse carries a point mutation in a myelin gene.Nature 356: 241–244.
Suzuki K, Suzuki K (1990) Myelin pathology in the twitcher mouse. In Duncan ID, Skoff RP, Colman D, eds.Myelination and Dysmyelination;Ann NY Acad Sci 605: 313–324.
Timmerman V, Nelis E, Van Hul W et al (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.Nature Genet 1: 171–175.
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Matthieu, J.-. An introduction to the molecular basis of inherited myelin diseases. J Inherit Metab Dis 16, 724–732 (1993). https://doi.org/10.1007/BF00711904
- Public Health
- Nervous System
- Plasma Membrane
- Internal Medicine