Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 37821433.
- Also identified by DOI 10.1038/s41467-023-42107-7 and PMC identifier 10567851.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy metabolism. We believe the newly described role of GCase in the mitochondria will inform new Parkinson’s and Gaucher’s disease therapeutics.
Medical subject headings
- Glucosylceramidase
- Gaucher Disease