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Kim, Dae Sik
유전체 교정 연구단
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Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice

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Title
Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice
Author(s)
Ji-Su Lee; Jae Y. Lee; Dong W. Song; Hee S. Bae; Hyun M. Doo; Ho S. Yu; Kyu J. Lee; Hee K. Kim; Hyun Hwang; Geon Kwak; Daesik Kim; Seokjoong Kim; Young B. Hong; Jung M. Lee; Byung-Ok Choi
Subject
PERIPHERAL-MYELIN PROTEIN-22, ; ASCORBIC-ACID TREATMENT, ; TRANSGENIC RAT MODEL, ; MOUSE MODEL, ; SCHWANN-CELLS, ; EXPRESSION, ; GENE, ; DELIVERY, ; PHENOTYPE, ; PATHOLOGY
Publication Date
2020-01
Journal
NUCLEIC ACIDS RESEARCH, v.48, no.1, pp.130 - 140
Publisher
OXFORD UNIV PRESS
Abstract
© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). Overexpressed PMP22 protein from its gene duplication is thought to cause demyelination and subsequently axonal degeneration in the peripheral nervous system (PNS). Here, we targeted TATA-box of human PMP22 promoter to normalize overexpressed PMP22 level in C22 mice, a mouse model of CMT1A harboring multiple copies of human PMP22. Direct local intraneural delivery of CRISPR/Cas9 designed to target TATA-box of PMP22 before the onset of disease, downregulates gene expression of PMP22 and preserves both myelin and axons. Notably, the same approach was effective in partial rescue of demyelination even after the onset of disease. Collectively, our data present a proof-of-concept that CRISPR/Cas9-mediated targeting of TATA-box can be utilized to treat CMT1A
URI
https://pr.ibs.re.kr/handle/8788114/8740
DOI
10.1093/nar/gkz1070
ISSN
0305-1048
Appears in Collections:
Center for Genome Engineering(유전체 교정 연구단) > 1. Journal Papers (저널논문)
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