ArticleMolecular therapy : the journal of the American Society of Gene Therapy2022
Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.Dermatology and therapy · 2024Review
- Embryo and fetal gene editing: Technical challenges and progress toward clinical applications.Molecular therapy. Methods & clinical development · 2024Review
- Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.Protein & cell · 2023Article
- [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Article
- Advances in CRISPR/Cas gene therapy for inborn errors of immunity.Frontiers in immunology · 2023Review
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- Improvements of nuclease and nickase gene modification techniques for the treatment of genetic diseases.Frontiers in genome editing · 2022Review
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A couple diagnosed as carriers for lamellar ichthyosis, an autosomal recessive rare disease, encountered two pregnancy losses. Their blood samples showed the same heterozygous c.607C>T mutation in the TGM1 gene. However, we found that about 98.4% of the sperm had mutations, suggesting possible de novo germline mutation. To explore the probability of correcting this mutation, we used two different adenine base editors (ABEs) combined with related truncated single guide RNA (sgRNA) to repair the pathogenic mutation in mutant zygotes. Our results showed that the editing efficiency was 73.8% for ABEmax-NG combined with 20-bp-length sgRNA and 78.7% for Sc-ABEmax combined with 19-bp-length sgRNA. The whole-genome sequencing (WGS) and deep sequencing analysis demonstrated precise DNA editing. This study reveals the possibility of correcting the genetic mutation in embryos with the ABE system.
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