Biochemistry and Molecular Biology, Paris-Descartes University, 26 rue de Chartres, 92200 Neuilly, France.
Med Hypotheses. 2019 Oct;131:109289. doi: 10.1016/j.mehy.2019.109289. Epub 2019 Jun 26.
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.
智力在第一年开始呈线性下降。这种现象可能与一种有毒化合物——硫化氢的过度产生有关。事实上,位于 21 号染色体上的一个基因控制着半胱氨酸-β-合酶的产生,这种酶参与中枢神经系统中硫化氢的产生。最近的研究表明,过量的半胱氨酸-β-合酶水平是诱导唐氏综合征小鼠模型认知表型所必需和充分的。因此,唐氏综合征患者可能有两种治疗选择:使用特定的半胱氨酸-β-合酶抑制剂和使用有效的解毒剂来降低硫化氢毒性。还建议对唐氏综合征胎儿进行产前治疗。