This study investigates the role of CYP2U1 in hereditary spastic paraplegia (SPG56) by characterizing a Cyp2u1 Knockout mouse model. The model exhibits cognitive deficits and retinal degeneration, mirroring patient phenotypes. Molecular analyses reveal mitochondrial dysfunction, altered CoQ metabolism, and folate deficiency. Notably, folate supplementation during development prevents cognitive impairments in the mice, highlighting the potential of early intervention.
CYP2U1 deficiency leads to mitochondrial dysfunction and folate deficiency, contributing to neurodevelopmental deficits. Folate supplementation during development ameliorates cognitive impairments in the mouse model.
Global Cyp2u1 Knockout (Cyp2u1⁻/⁻) mouse model, generated by constitutive deletion of exon 2 in the Cyp2u1 gene, leading to complete loss of CYP2U1 protein expression.
Hereditary spastic paraplegia, Mitochondrial dysfunction, Folate metabolism, Neurodevelopmental disorders
Constitutive Knockout model, Exon 2 deletion, Cyp2u1 gene targeting, Neurobehavioral assessment
From model design to experimental results
Tailor-made solutions adapted to scientific questions
Comprehensive dataset package
Generated with biopharma partners and in-house
Scientific follow-up and advice along the project
Collaborative approach for problem solving and development of innovative models
Breeding facilities in US and Europe
Certified health status from professional breeders
