The SLC43A3 gene encodes a member of the equilibrative nucleobase transporter family 1 (ENBT1), responsible for cellular uptake of purine bases, particularly adenine. Adenine and its metabolites play crucial roles in nucleotide synthesis, energy metabolism, and neuromodulation. Evidence suggests that alterations in purine transport pathways can influence neurochemical balance, neurotransmission, and mood regulation. This project aims to investigate whether genetic variations, expression changes, or functional alterations in SLC43A3 are associated with predisposition to depressive phenotypes, especially in relation to adenine metabolism.
Using UK Biobank genomic, transcriptomic, and phenotypic data, we will examine correlations between SLC43A3 variants and mental health outcomes, focusing on depressive symptoms, cognitive changes, and fatigue-related traits. We will incorporate biochemical markers of purine metabolism and neurally relevant metabolites, along with lifestyle and pharmacological data, to determine whether altered adenine transport contributes to depressant mechanisms.
The findings could enhance our understanding of purine metabolism’s role in neuropsychiatric disorders, inform targeted therapies, and identify potential biomarkers for early intervention in mood disorders.
