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

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

doi:10.1016/j.ymgmr.2021.100709

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

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

^*Corresponding author for this work

Institute of Systemic Inflamation Research

17 Citations (Scopus)

Abstract

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.

Original language	English
Article number	100709
Journal	Molecular Genetics and Metabolism Reports
Volume	26
Pages (from-to)	100709
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100709
Publication status	Published - 03.2021

Funding

We thank our patient and his parents for their cooperation and support. We are grateful for clinical support from our colleagues Sarabel Frey, Anja Palmowski-Wolfe, Benno Röthlisberger, Daniel Trachsel and Andreas Wörner and we thank Gunhild Unterstab and Christoph Hess for their help with sample preparation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program .

Research Areas and Centers

Academic Focus: Center for Infection and Inflammation Research (ZIEL)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgmr.2021.100709

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Lenherr, N., Christodoulou, J., Duley, J., Dobritzsch, D., Fairbanks, L., Datta, A. N., Filges, I., Gürtler, N., Roelofsen, J., van Kuilenburg, A. B. P., Kemper, C., West, E. E., Szinnai, G., & Huemer, M. (2021). Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency). Molecular Genetics and Metabolism Reports, 26, 100709. Article 100709. https://doi.org/10.1016/j.ymgmr.2021.100709

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abstract = "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.",

author = "Nina Lenherr and John Christodoulou and John Duley and Doreen Dobritzsch and Lynette Fairbanks and Datta, \{Alexandre N.\} and Isabel Filges and Nicolas G{\"u}rtler and Jeroen Roelofsen and \{van Kuilenburg\}, \{Andr{\'e} B.P.\} and Claudia Kemper and West, \{Erin E.\} and Gabor Szinnai and Martina Huemer",

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Lenherr, N, Christodoulou, J, Duley, J, Dobritzsch, D, Fairbanks, L, Datta, AN, Filges, I, Gürtler, N, Roelofsen, J, van Kuilenburg, ABP, Kemper, C, West, EE, Szinnai, G & Huemer, M 2021, 'Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)', Molecular Genetics and Metabolism Reports, vol. 26, 100709, pp. 100709. https://doi.org/10.1016/j.ymgmr.2021.100709

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AU - Lenherr, Nina

AU - Christodoulou, John

AU - Duley, John

AU - Dobritzsch, Doreen

AU - Fairbanks, Lynette

AU - Datta, Alexandre N.

AU - Filges, Isabel

AU - Gürtler, Nicolas

AU - Roelofsen, Jeroen

AU - van Kuilenburg, André B.P.

AU - Kemper, Claudia

AU - West, Erin E.

AU - Szinnai, Gabor

AU - Huemer, Martina

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N2 - 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.

AB - 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.

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

Abstract

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Research Areas and Centers

UN SDGs

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