Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
| العنوان: | Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) |
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| المؤلفون: | Claudia Kemper, Doreen Dobritzsch, Jeroen Roelofsen, Alexandre N. Datta, Gabor Szinnai, John A. Duley, Nina Lenherr, Nicolas Gürtler, Isabel Filges, John Christodoulou, Erin E. West, Lynette D. Fairbanks, André B.P. van Kuilenburg, Martina Huemer |
| المساهمون: | University of Zurich, Huemer, Martina, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100709-(2021) Molecular genetics and metabolism reports, 26:100709. Elsevier BV Molecular Genetics and Metabolism Reports |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Purine, medicine.medical_specialty, Adenosine triphosphate, ATP, Guanosine triphosphate, GTP, Cell- och molekylärbiologi, Case Report, NAD phosphate, NADP, 610 Medicine & health, chemistry.chemical_compound, Endocrinology, Atrophy, 1311 Genetics, Internal medicine, 5-phosphoribosyl-1- pyrophosphate, PRPP, PRPP synthase, PRPPS, Genetics, 1312 Molecular Biology, Medicine, S-adenosylmethionine, SAM, Purine metabolism, Molecular Biology, lcsh:QH301-705.5, Medicinsk genetik, lcsh:R5-920, Nicotinamide, business.industry, Arts syndrome, nicotinamide adenine dinucleotide, NAD, phosphoribosyl-pyrophosphate-synthetase-1, PRPS1, medicine.disease, Adenosine, 1310 Endocrinology, chemistry, lcsh:Biology (General), 10036 Medical Clinic, Nicotinamide riboside, Sensorineural hearing loss, Nicotinamide riboside, NR, business, lcsh:Medicine (General), Medical Genetics, Cell and Molecular Biology, medicine.drug |
| الوصف: | Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 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. Highlights • Improves t-cell survival and function in PRPS1 deficiency • Improves overall well-being • Results in less (severe) infections • Is well tolerated |
| وصف الملف: | 1-s2.0-S2214426921000033-main.pdf - application/pdf; application/pdf |
| اللغة: | English |
| DOI: | 10.5167/uzh-213638 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aeca935c1a124180f10cfcc4ec01288 https://doi.org/10.5167/uzh-213638 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8aeca935c1a124180f10cfcc4ec01288 |
| قاعدة البيانات: | OpenAIRE |
| DOI: | 10.5167/uzh-213638 |
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