Takeaway
Newly-identified lysyl-tRNA synthetase (KARS) variants were associated with reductions in enzymatic activity and expression of LysRS proteins in people with a severe progressive leukodystrophy phenotype.
Why this matters
Abnormalities in t-RNA synthetase proteins such as LysRS, encoded by ARS genes, have been linked to the severe neurodevelopmental defects associated with leukodystrophies.