Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.
Reduction of biopterin (BP) due to a mutation in the GTP-cyclohydrolase I gene causes hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD). To determine whether an age-related BP decline may contribute to HPD/DRD onset (from 1 to 13 years of age), we measured brain BP levels in 57 normal subjects ranging in age from 1 day to 92 years. Putaminal BP showed a significant increase in postnatal period, reaching a plateau at 1 to 13 years of age, and a decrease in adulthood. The HPD/DRD onset in childhood is unlikely to be caused by a brain BP decline during the first decade of life, but that in adulthood could be related to the age-dependent decrease.
Furukawa
Y
Y
Human Neurochemical Pathology Laboratory, Centre for Addiction and Mental Health, The Clarke Division, Toronto, Ontario, Canada.
Kish
S J
SJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000378:metabolism*; D001708:Biopterins / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D015259:Dopamine Agents / Q000627:therapeutic use*; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental / Q000502:physiology; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged
D015259:Dopamine Agents; D001708:Biopterins; D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase