homeostasis/metabolism
|
• mice show a 40% difference in the levels of dopamine in whole-brain extracts after 30 days of age compared to controls
• reduced levels of dopamine in the brain are associated with normal levels of the precursor tyrosine but decreased tyrosine hydroxylation
• 47.5%, 23.7%, 19.9%, and 15.5% reduction in dopamine levels in the caudoputamen, diencephalon, midbrain, and brainstem, respectively
• 26.2%, 16.5%, and 18.3% reduction in the levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) in the caudoputamen, diencephalon, and midbrain, respectively, but not in other regions
• 16.4%, 31.9%, 23.1% and 10.8% reduction in the levels of the dopamine metabolite homovanillic acid in the diencephalon, midbrain, cortex, and brainstem, respectively
• however, levels of norepinephrine and 5-HT are normal and normal levels of dopamine are seen in the accumbens, olfactory bulbs, and cortex
|
|
• choline acetyltransferase activity is about 16.4% lower in the caudoputamen
|
|
• tyrosine hydroxylase enzyme activity is about 33.1% lower in the caudoputamen and in the cortex
|
nervous system
|
• quantitative autoradiographic studies show reductions in the binding of 3H-BTCP to dopamine uptake sites in the caudoputamen of the forebrain but not in the accumbens or olfactory tubercle, suggesting reduced dopamine fiber density in the basal ganglia
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Lesch-Nyhan syndrome | DOID:1919 |
OMIM:300322 |
J:17798 |