Tier 4 — mechanistic

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

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
Molecular genetics and metabolism reports 2021 26; 100709

Bibliography

PubMed
PMID 33532242
PubMed Central
PMC7823043
Funding
The authors reported no dedicated study funding; supporting institute research received Victorian Government infrastructure support.
Competing interests
A complete competing-interest declaration is not specified in the accessible publication information.

Study snapshot

DesignClinical case report
ModelHuman participants
SampleOne 3-year-old boy with Arts syndrome
InterventionSAM with NR co-therapy
DurationIndividual clinical and laboratory follow-up
EndpointsT-cell function; purine metabolites; clinical status

What the study showed, in plain terms

The report described changes in immune-cell function and clinical status during metabolic replacement therapy.

Key findings

The report described changes in immune-cell function and clinical status during metabolic replacement therapy.

What this study can and cannot tell us

Single case with combined treatment. Functional cell findings do not isolate NR’s contribution or establish a general immune benefit.

Editorial review

Reviewed by the Biohack Blueprint research team

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