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

Cited 6 time in scopus
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Title
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual
Author(s)
Y Yun; S A Hong; K K Kim; D Baek; D Lee; A M Londhe; Minhyung Lee; J Yu; Z T McEachin; G J Bassell; R Bowser; C M Hales; S R Cho; Janghwan Kim; A N Pae; E Cheong; S Kim; N M Boulis; S Bae; Y Ha
Bibliographic Citation
Communications Biology, vol. 3, pp. 33-33
Publication Year
2020
Abstract
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.
ISSN
2399-3642
Publisher
Springer-Nature Pub Group
DOI
http://dx.doi.org/10.1038/s42003-020-0755-1
Type
Article
Appears in Collections:
Division of Research on National Challenges > Stem Cell Convergenece Research Center > 1. Journal Articles
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