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우수성과SAIHST 구성원의 언론보도내용 및 수상내역, 각 연구분야의 우수 학술지에 게재된 논문 등 우수한 성과들을 소개합니다.

[최병옥 교수/ 우수논문] Nucleic Acids Research. 10 Jan 2020
No 1
작성자 관리자
등록일 2020/04/06



최병옥 교수

SAIHST 융합의과학과/ 의과대학 신경과학



Impact Factor('18)= 11.147 





Nucleic Acids Research, Volume 48, Issue 1, 10 January 2020, Pages 130–140 , DOI: 10.1093/nar/gkz1070            


Targeted PMP22 TATA-box Editing by CRISPR/Cas9 Reduces Demyelinating Neuropathy of Charcot-Marie-Tooth Disease Type 1A in Mice

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   




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.



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