Intractable Rare Dis Res. 2013;2(3):103-105. (DOI: 10.5582/irdr.2013.v2.3.103)

Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy.

Xia JF, Wang L


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.

KEYWORDS: Pelizaeus-Merzbacher disease, PLP1 gene, duplication, molecular diagnosis, iPS cell

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