sodium-nitrite and Down-Syndrome

Mental retardation is a progressive condition in Down syndrome: intelligence starts to decline linearly within the first year. This phenomenon could be related to the overproduction of a toxic compound, hydrogen sulfide. Indeed, a gene located on chromosome 21 controls the production of cystathionine-β-synthase, an enzyme involved in hydrogen sulfide production in the central nervous system. It has recently been demonstrated that excess cystathionine-β-synthase levels are needed and sufficient to induce cognitive phenotypes in mouse models of Down syndrome. Thus, two therapeutic options might be used in Down syndrome patients: the use of a specific cystathionine β-synthase inhibitor and the use of an effective antidote to reduce hydrogen sulfide toxicity. Prenatal treatment of Down syndrome fetuses is also suggested.

Topics: Aminooxyacetic Acid; Animals; Benserazide; Brain; Chromosomes, Human, Pair 21; Cobamides; Cystathionine beta-Synthase; Disease Models, Animal; Disease Progression; Disulfiram; Down Syndrome; Enzyme Inhibitors; Gene Dosage; Humans; Hydrogen Sulfide; Infant, Newborn; Intellectual Disability; Mice; Mitochondria; Rats; Sodium Nitrite; Species Specificity; Thiosulfates

Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Down Syndrome; Female; Humans; Hydrogen Sulfide; Infant; Male; Middle Aged; Sodium Nitrite; Thiosulfates