We are pleased to announce a publication by Dr. Laura Contreras and Professor Jorgina Satrústegui whose work was sponsored by Citrin Foundation. The paper, titled “Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver” was published in Molecular Genetics and Metabolism and is available for viewing here: Molecular Genetics and Metabolism| Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
The paper explores the exogenous expression of aralar (slc25a12), the aspartate-glutamate carrier (AGC) found in the brain, to replace citrin (slc25a13) in citrin-knockout mice as a potential therapy for citrin deficiency. Interestingly, it was observed in hepatocytes isolated from these mice that exogenous aralar expression reversed the increase in NADH/NAD+ ratio. Hepatic mitochondria from citrin-KO mice expressing a liver-specific transgene for aralar expression showed a slight increase in malate aspartate shuttle (MAS) activity when compared to citrin-KO mice. These results support the functional replacement of citrin with aralar in the liver to improve redox balance capacity of the human liver, which may serve as a potential therapy for citrin deficiency.
We believe that the findings from this publication will be beneficial in advancing our research toward developing effective therapeutics for CD. We hope that it will serve as an important resource for both clinicians and scientists 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
