We are pleased to announce a publication by Dr. Winifred Yau and Professor Paul Yen that was sponsored by Citrin Foundation. The paper, titled “Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency” is published in Human Molecular Genetics and available for viewing here: Oxford Academic|Human Molecular Genetics|Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
This paper studies the efficacy of nicotinamide riboside on a CITRIN knock-out (KO) HepG2 cell line, as a novel strategy to treat some of the metabolic defects of citrin deficiency (CD). These cells displayed several metabolic derangements associated with the human condition, such as increased NADH/NAD+, reduced glycolysis, impaired fatty acid metabolism, and reduced mitochondrial activity. Interestingly, the study found that nicotinamide riboside supplementation was able to normalize cytosolic NADH/NAD+ ratio, which improved glycolysis and fatty acid metabolism defects in CITRIN KO cells. This suggests that nicotinamide riboside may be a novel strategy to treat some of the metabolic defects of CD and other mitochondrial diseases.
We believe that the findings from this publication will be beneficial in advancing our research towards developing effective therapeutics for CD. We hope that it will serve as an informative resource for the wider CD medical and research community to refer to going forward.
The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency are currently offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities/.
We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org
