We are pleased to announce a publication titled “Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport”. This paper was first-authored by Drs. Sotiria Tavoulari, Denis Lacabanne and Gonçalo Pereira, with Prof. Edmund Kunji as senior author.The paper was published in the Molecular Metabolism and is available for viewing here: Molecular Metabolism | Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport
This original research study, co-funded by the Citrin Foundation, offers new insights into the function of the citrin protein and the defects elicited by missense pathogenic mutations, advancing the field of citrin deficiency research.
The findings reveal, for the first time, that calcium binding to the N-terminal domain does not regulate substrate transport activity as previously thought. Additionally, calcium binding does not affect protein stability, dimerization or mitochondrial import. Instead, mutations in this domain cause mitochondrial import defects. By contrast, most missense mutations in the carrier domain had minimal or no impact on mitochondrial localization but significantly impaired transport activity. These discoveries provide critical groundwork for understanding disease pathogenesis and could aid future therapeutic development, as well as the diagnostic and prognostic assessment of citrin deficiency.
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
