Pompe disease: pathogenesis, molecular genetics and diagnosis
Simona Taverna, Giuseppe Cammarata, Paolo Colomba, Serafina Sciarrino, Carmela Zizzo, Daniele Francofonte, Marco Zora, Simone Scalia, Chiara Brando, Alessia Lo Curto, Emanuela Maria Marsana, Roberta Olivieri, Silvia Rita Vitale, Giovanni Duro
Abstract
gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal storage of glycogen in several tissues, particularly in muscle. PD is a chronic and progressive pathology usually characterized by limb-girdle muscle weakness and respiratory failure. PD is classified as infantile and childhood/adult forms. PD patients exhibit a multisystemic manifestation that depends on age of onset.Early diagnosis is essential to prevent or reduce the irreversible organ damage associated with PD progression. Here, we make an overview of PD focusing on pathogenesis, clinical phenotypes, molecular genetics, diagnosis, therapies, autophagy and the role of miRNAs as potential biomarkers for PD.