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CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

 Yeomin Yun  ;  Sung-Ah Hong  ;  Ka-Kyung Kim  ;  Daye Baek  ;  Dongsu Lee  ;  Ashwini M Londhe  ;  Minhyung Lee  ;  Jihyeon Yu  ;  Zachary T McEachin  ;  Gary J Bassell  ;  Robert Bowser  ;  Chadwick M Hales  ;  Sung-Rae Cho  ;  Janghwan Kim  ;  Ae Nim Pae  ;  Eunji Cheong  ;  Sangwoo Kim  ;  Nicholas M Boulis  ;  Sangsu Bae  ;  Yoon Ha 
 COMMUNICATIONS BIOLOGY, Vol.3(1) : 33, 2020-12 
Journal Title
Issue Date
Amyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a complete cure has not been developed and related genes have not been defined in more than 80% of cases. Here we compared whole genome sequencing results from a male ALS patient and his healthy parents to identify relevant variants, and chose one variant in the X-linked ATP7A gene, M1311V, as a strong disease-linked candidate after profound examination. Although this variant is not rare in the Ashkenazi Jewish population according to results in the genome aggregation database (gnomAD), CRISPR-mediated gene correction of this mutation in patient-derived and re-differentiated motor neurons drastically rescued neuronal activities and functions. These results suggest that the ATP7A M1311V mutation has a potential responsibility for ALS in this patient and might be a potential therapeutic target, revealed here by a personalized medicine strategy.
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1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
Yonsei Authors
Cho, Sung-Rae(조성래) ORCID logo https://orcid.org/0000-0003-1429-2684
Ha, Yoon(하윤)
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