S-腺苷甲硫氨酸和烟酰胺核糖苷联合治疗可改善艺术综合征（PRPS1缺乏症）中T细胞的存活和功能。

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

作者信息

Lenherr Nina, Christodoulou John, Duley John, Dobritzsch Doreen, Fairbanks Lynette, Datta Alexandre N, Filges Isabel, Gürtler Nicolas, Roelofsen Jeroen, van Kuilenburg André B P, Kemper Claudia, West Erin E, Szinnai Gabor, Huemer Martina

机构信息

Department of Paediatrics, University Children's Hospital Basel and University of Basel, Basel, Switzerland.

Department of Paediatrics, The University of Melbourne, Murdoch Children's Research Institute, Parkville, VIC, Australia.

出版信息

Mol Genet Metab Rep. 2021 Jan 20;26:100709. doi: 10.1016/j.ymgmr.2021.100709. eCollection 2021 Mar.

Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and nicotinamide. Classically, affected males present with sensorineural hearing loss, optic atrophy, muscular hypotonia, developmental impairment, and recurrent severe respiratory infections early in life. Treatment of a 3-year old boy with S-adenosylmethionine (SAM) replenished erythrocyte purine nucleotides of adenosine and guanosine, while SAM and nicotinamide riboside co-therapy further improved his clinical phenotype as well as T-cell survival and function.