12:25 - 12:50
Modera: Maria Chiara Pastore (Università Politecnico di Milano)

12:30 | A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II
Roberta Iacono (Università di Napoli Federico II)

12:40 | Nature-Positive by Design: Scaling the Circular Bioeconomy Without Breaking the Planet
Paola Branduardi (Università di Milano-Bicocca)
Submission 132
A Stable GH31 α-Glucosidase as a Model System for the Study of Mutations Leading to Human Glycogen Storage Disease Type II
Intervento-01
Presented by: Roberta Iacono
Roberta Iacono
Department of Biology, University of Naples "Federico II"
NBFC, National Biodiversity Future Center, Palermo, Italy.

GH31 glycosidases are widespread across organisms, but, remarkably, less than 1% have been biochemically characterized to date. Among them, human lysosomal acid α-glucosidase (GAA) is notable for its link to Pompe disease, a rare lysosomal storage disorder caused by its deficiency (1). This disease results in glycogen accumulation, severe cellular damage, motor impairment, and premature death. Structural and functional studies of GAA mutants are challenging due to their instability and lack of activity, hindering their expression and purification. Here, we explore MalA, a GH31 enzyme from the hyperthermophilic archaeon Saccharolobus solfataricus, as a stable homolog of GAA. Its exceptional thermal stability and robustness (2) make MalA an ideal scaffold for studying its less stable human homolog. The R400H mutant in MalA, corresponding to the pathogenic GAA R600H mutation, exhibited a 1200-fold drop in specificity constant and a >8 °C reduction in thermal stability. Furthermore, the pharmacological chaperones used in Pompe disease therapy exhibited a differential stabilizing effect on the mutant versus the wild-type enzyme, which is conventionally used to screen for the chaperoning activity of new molecules. These findings validate MalA as a powerful functional model that accurately mimics the destabilizing effects of pathogenic mutations. Furthermore, we propose the thermophilic enzyme MalA as a robust platform for investigating GAA-related mutations and for screening novel therapeutic chaperones (3).