Rescue of glutaric aciduria type I in mice by liver-directed therapies

Sci Transl Med. 2023 Apr 19;15(692):eadf4086. doi: 10.1126/scitranslmed.adf4086. Epub 2023 Apr 19.

Abstract

Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism. Current literature suggests that toxic catabolites in the brain are produced locally and do not cross the blood-brain barrier. In a series of experiments using knockout mice of the lysine catabolic pathway and liver cell transplantation, we uncovered that toxic GA-1 catabolites in the brain originated from the liver. Moreover, the characteristic brain and lethal phenotype of the GA-1 mouse model was rescued by two different liver-directed gene therapy approaches: Using an adeno-associated virus, we replaced the defective Gcdh gene or we prevented flux through the lysine degradation pathway by CRISPR deletion of the aminoadipate-semialdehyde synthase (Aass) gene. Our findings question the current pathophysiological understanding of GA-1 and reveal a targeted therapy for this devastating disorder.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Glutaryl-CoA Dehydrogenase* / genetics
  • Glutaryl-CoA Dehydrogenase* / metabolism
  • Liver / metabolism
  • Lysine* / metabolism
  • Mice
  • Mice, Knockout

Substances

  • Glutaryl-CoA Dehydrogenase
  • Lysine

Supplementary concepts

  • Glutaric Acidemia I