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Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene | | A Schneider
; P Montague
; I Griffiths
; M Fanarraga
; P Kennedy
; P Brophy
; K A Nave
; | | Date: |
27 Aug 1992 | | Journal: | Nature, 358 (6389), 758-61 | | Abstract: | Proteolipid protein (PLP; M(r) 30,000) is a highly conserved major polytopic membrane protein in myelin but its cellular function remains obscure. Neurological mutant mice can often provide model systems for human genetic disorders. Mutations of the X-chromosome-linked PLP gene are lethal, identified first in the jimpy mouse and subsequently in patients with Pelizaeus-Merzbacher disease. The unexplained phenotype of these mutations includes degeneration and premature cell death of oligodendrocytes with associated hypomyelination. Here we show that a new mouse mutant rumpshaker is defined by the amino-acid substitution Ile-to-Thr at residue 186 in a membrane-embedded domain of PLP. Surprisingly, rumpshaker mice, although myelin-deficient, have normal longevity and a full complement of morphologically normal oligodendrocytes. Hypomyelination can thus be genetically separated from the PLP-dependent oligodendrocyte degeneration. We suggest that PLP has a vital function in glial cell development, distinct from its later role in myelin assembly, and that this dichotomy of action may explain the clinical spectrum of Pelizaeus-Merzbacher disease. | | Source: | PubMed, pmid1380672 doi: 10.1038/358758a0 | | Services: | Forum | Review | Favorites | |
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