In vivo brain myo-inositol levels in children with Down syndrome.
The Na+/myo-inositol cotransporter (SLC5A3) gene, located on the long arm of human chromosome 21, may play a key role in osmoregulation including the regulation of levels of the "idiogenic osmole," myo-inositol, in brain cells. To determine whether the levels of myo-inositol are increased in the basal ganglia of children with Down syndrome, we performed in vivo brain hydrogen 1-nuclear magnetic resonance or 1H-magnetic resonance spectroscopy and measured plasma osmolality in a cohort of children with trisomy 21. Myo-inositol is elevated in the corpus striatum of infants and children with Down syndrome, even in the absence of hypertonic stress.
Berry
G T
GT
Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Wang
Z J
ZJ
Dreha
S F
SF
Finucane
B M
BM
Zimmerman
R A
RA
D000293:Adolescent; D001479:Basal Ganglia / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D007294:Inositol / Q000097:blood*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009994:Osmolar Concentration
D007294:Inositol