Cited 6 time in
- 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
- Files in This Item:
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