Proteomics

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Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease

ABSTRACT: Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translational fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth type 2W (CMT2W). HARS V133F and Y330C cause mistranslation as validated by mass spectrometry and growth defects that persist with histidine supplementation. The growth defects and translation fidelity for both V133F and Y330C mutants were rescued by supplementation with human tRNAHis in a humanized yeast model.

INSTRUMENT(S): Orbitrap Exploris 240

ORGANISM(S): Saccharomyces Cerevisiae (baker's Yeast)

SUBMITTER: Kyle Hoffman  

LAB HEAD: Ilka Heinemann

PROVIDER: PXD050340 | Pride | 2025-05-06

REPOSITORIES: Pride

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Dataset's files

Source:
Action DRS
133-peaks_ptm.peptides.csv Csv
133-peaks_ptm.proteins.csv Csv
133-tRNA-peaks_ptm.peptides.csv Csv
133-tRNA-peaks_ptm.proteins.csv Csv
330-peaks_ptm.peptides.csv Csv
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Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.

Wilhelm Sarah D P SDP   Kakadia Jenica H JH   Beharry Aruun A   Kenana Rosan R   Hoffman Kyle S KS   O'Donoghue Patrick P   Heinemann Ilka U IU  

Nucleic acids research 20241201 22

Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translation fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth type 2W (CMT2W). Treatments are currently restricted to symptom relief, with no therapeutic available that targets the cause of disease. We previously found that histidine supplementation alleviated phenot  ...[more]

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