Molecular pathology of disease-associated mutations of the proteolipid protein [Poster]

Abstract

Dysmyelinating Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the gene encoding myelin proteolipid protein (PLP). Different missense mutations in PLP result in PMD of varying severity. Identifying variations in the ability of the ER quality control machinery to deal with different mutants of PLP has helped to explain such phenotypic heterogeneity. We have used a stable inducible HeLa cell system to describe the fundamental cellular events associated with expression of three different transmembrane missense mutants of PLP associated with disease of varying severity.</p