The proteolipid protein gene: Double, double, . . . and trouble
- Indiana Univ. School of Medicine, Indianapolis, IN (United States)
That more of a good thing may be too much has been apparent at least since the discovery that Down syndrome is caused by three copies of chromosome 21 instead of the normal two. Duplications of myelin genes also lead to trouble. An extra dose of PMP22, the gene for a protein of peripheral nervous system myelin, causes Charcot-Marie Tooth type 1A disease (CMT1A). Increased dosage of the proteolipid protein gene, PLP, which encodes the chief protein of CNS myelin, can cause Pelizaeus-Merzbacher disease (PMD). The work of Inoue et al. is of particular importance because they found the duplication in four of five families with {open_quotes}classical{close_quotes} PMD, whereas other changes in PLP, such as missense mutations, are found in no more than one in four or five patients with the disease. 27 refs.
- OSTI ID:
- 443729
- Journal Information:
- American Journal of Human Genetics, Vol. 59, Issue 1; Other Information: PBD: Jul 1996
- Country of Publication:
- United States
- Language:
- English
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