Medical hypotheses · 2019
Mental retardation in Down syndrome: Two ways to treat.
СтатьяНазвание и аннотация: Перевод в очереди
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Kamoun Pierre P
Аннотация
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.
Предметные рубрики MeSH
Aminooxyacetic AcidAnimalsBenserazideBrainChromosomes, Human, Pair 21CobamidesCystathionine beta-SynthaseDisease Models, AnimalDisease ProgressionDisulfiramDown SyndromeEnzyme InhibitorsGene DosageHumansHydrogen SulfideInfant, NewbornIntellectual DisabilityMiceMitochondriaRatsSodium NitriteSpecies SpecificityThiosulfates