OMIA:002720-7994 : Monoamine oxidase deficiency in Astyanax mexicanus (Mexican tetra)
Categories: Homeostasis / metabolism phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: unknown
Species-specific description: Pierre et al. (2023) "assessed the structural and biochemical consequences of a point mutation (P106L) in the single mao gene of the blind cavefish, Astyanax mexicanus. This mutation decreased mao enzymatic activity by ∼3-fold and affected the enzyme kinetics parameters, in line with potential structure-function alterations. HPLC measurements in brains of four Astyanax genetic lines (mutant and non-mutant cavefish; mutant and non-mutant surface fish) showed major disturbances in serotonin, dopamine, noradrenalin and metabolites levels in mutants and demonstrated that the P106L mao mutation is responsible for monoaminergic disequilibrium in the P106L mao mutant cavefish brain."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2023||Pierre, C., Callebert, J., Launay, J.M., Leclercq, J., Rétaux, S. :|
|The enzymatic and neurochemical outcomes of a mutation in Mexican cavefish MAO reveal teleost-specific aspects of brain monoamine homeostasis. J Exp Biol , 2023. Pubmed reference: 37309675. DOI: 10.1242/jeb.245448.|
- Created by Imke Tammen2 on 15 Jun 2023