Publications by authors named "Ryan Victor-Joseph"
Article Synopsis
- * Research identified two genetic variants (P114T and L128V) in patients suspected of mitochondrial disease, which result in less stable SIRT5 protein and lower activity without creating new harmful effects.
- * A mouse model mimicking the P114T mutation demonstrates reduced SIRT5 levels, but does not show significant metabolic or neurological issues, suggesting that these genetic variants alone are unlikely to be the main cause of the neurological problems in patients.
Article Synopsis
- SIRT5 is a deacylase involved in removing negatively-charged lysine modifications, mostly active in the mitochondrial matrix.
- Two specific variants in SIRT5 (P114T and L128V) found in human patients with severe mitochondrial disease lead to decreased protein stability and activity, but do not show signs of dominant negative effects.
- A mouse model created to mimic the P114T variant shows reduced SIRT5 levels and activity without significant health issues, suggesting the variants might not be the main cause of the patients' neurological symptoms.
