Among these, SLC7A11 stands out as the primary functional subunit, orchestrating the pivotal role of transporting cystine into the cell [18]
SHANK3 mutations are likely to cause mitochondrial dysfunction in PMS because six mitochondrial genes, including NADH dehydrogenase 1 alpha subcomplex subunit 6 (NDUFA6 ), cytochrome c oxidase assembly ( SCO2 ), tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ( TRMU ), thymidine phosphorylase ( TYMP ), carnitine palmitoyltransferase 1B ( CPT1B ), and aconitase 2 ( ACO2 ), are adjacent to SHANK3 in the 22q13.3 region [339]
Its exceptional stability (acid-pH resistance, enzymatic resistance outperforming most bioactive peptides) enables partial oral bioavailability and a systemic half-life compatible with once-daily administration
Management of associated conditions is essential: Diabetes control : Pioglitazone and GLP-1 receptor agonists (such as liraglutide or semaglutide) show hepatic benefits in clinical trials, but their use for NASH is off-label in the UK and should be initiated and monitored by specialists after careful riskbenefit discussion
