PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

CONCLUSIONS: We report for the first time a mutation in PNC2/SLC25A36 leading to HI/HA and provide functional evidence of the molecular mechanism responsible for this phenotype. Our findings underscore the importance of mitochondrial nucleotide metabolism and expand the role of mitochondrial transporters in insulin secretion.PMID:34971397 | DOI:10.1210/clinem/dgab932

Source: The Journal of Clinical Endocrinology and Metabolism - December 31, 2021 Category: Endocrinology Authors: Maher A Shahrour Francesco Massimo Lasorsa Vito Porcelli Imad Dweikat Maria Antonietta Di Noia Michal Gur Giulia Agostino Avraham Shaag Teresa Rinaldi Giuseppe Gasparre Flora Guerra Alessandra Castegna Simona Todisco Bassam Abu-Libdeh Orly Elpeleg Luigi P Source Type: research