RESUMO

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.

Assuntos

Gânglios da Base/metabolismo , Síndrome de Down/sangue , Inositol/sangue , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Espectroscopia de Ressonância Magnética , Masculino , Concentração Osmolar