We are pleased to announce a publication by Dr. Sotiria Tavoulari (Roula) and Professor Edmund Kunji that was sponsored by Citrin Foundation. The paper, titled “Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency” was published in Trends in Endocrinology & Metabolism and is available for viewing here: Trends in Endocrinology & Metabolism| Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
This paper provides an updated overview of Citrin Deficiency from a biochemical perspective, including a comprehensive explanation of the metabolic consequences of the condition, and an up-to-date review of the mutation frequencies and carrier rates across various East Asian populations. The paper also describes the molecular movements of the citrin protein involved in regulation and substrate (aspartate/glutamate) transport between the cytosolic and mitochondrial compartments. It also discusses, for the first time, all known pathogenic mutations reported in the literature, providing useful predictions into the relationship between genetic mutations of the SLC25A13 gene, which codes for citrin, and the associated structural defects and possible functional consequences.
We believe that the findings from this publication will significantly contribute to our understanding of the condition and benefit the wider citrin deficiency medical and research community. We hope that it will serve as an important resource for you 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 are currently offering up to US$30 million in grants and 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
