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.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health