Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy

Abstract

Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus–Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependant probe amplification (MLPA). The characteristics of these methods should be taken into account when using them. There is currently no treatment for PMD, so a cure is urgently need. Advances in research on stem cell therapies, and especially induced pluripotent stem cell therapy, offer great promise for development of a treatment for PMD.