Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy

• Xia Jufeng

  Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences

• Wang Ling

  Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Fudan University Shanghai Medical College

抄録

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.

収録刊行物

• Intractable & Rare Diseases Research

  Intractable & Rare Diseases Research 2 (3), 103-105, 2013

  特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

キーワード

• Pelizaeus-Merzbacher disease
• PLP1 gene
• duplication
• molecular diagnosis
• iPS cell

詳細情報

• CRID: 1390282680523186176
• NII論文ID: 130003397566
• DOI: 10.5582/irdr.2013.v2.3.103
• ISSN: 2186361X
• ISSN: 21863644
• 本文言語コード: en
• データソース種別:
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