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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Systemische Entzündungsforschung

18 Zitate (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.

Originalsprache	Englisch
Aufsatznummer	100709
Zeitschrift	Molecular Genetics and Metabolism Reports
Jahrgang	26
Seiten (von - bis)	100709
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100709
Publikationsstatus	Veröffentlicht - 03.2021

Fördermittel

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 .

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Forschungsschwerpunkt: Infektion und Entzündung - Zentrum für Infektions- und Entzündungsforschung Lübeck (ZIEL)

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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. Artikel 100709. https://doi.org/10.1016/j.ymgmr.2021.100709

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

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",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = mar,

doi = "10.1016/j.ymgmr.2021.100709",

language = "English",

volume = "26",

pages = "100709",

journal = "Molecular Genetics and Metabolism Reports",

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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, Jg. 26, 100709, S. 100709. https://doi.org/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). / Lenherr, Nina; Christodoulou, John; Duley, John et al.
in: Molecular Genetics and Metabolism Reports, Jahrgang 26, 100709, 03.2021, S. 100709.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

T1 - Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

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

PY - 2021/3

Y1 - 2021/3

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.

UR - https://www.scopus.com/pages/publications/85099614850

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DO - 10.1016/j.ymgmr.2021.100709

M3 - Journal articles

C2 - 33532242

AN - SCOPUS:85099614850

SN - 2214-4269

VL - 26

SP - 100709

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 100709

ER -

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

Abstract

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