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.

• Authors: Jufeng Xia, Ling Wang
• Journal: Intractable & rare diseases research (Intractable Rare Dis Res) Vol. 2 Issue 3 Pg. 103-5 (Aug 2013) ISSN: 2186-3644 [Print] Japan
• PMID: 25343112 (Publication Type: Journal Article)