Review|Volume 12, Issue 15|pp 15856—15874

Pompe disease: pathogenesis, molecular genetics and diagnosis

Simona Taverna¹, Giuseppe Cammarata¹, Paolo Colomba¹, Serafina Sciarrino¹, Carmela Zizzo¹, Daniele Francofonte¹, Marco Zora¹, Simone Scalia¹, Chiara Brando¹, Alessia Lo Curto¹, Emanuela Maria Marsana¹, Roberta Olivieri¹, Silvia Vitale¹, Giovanni Duro¹

¹Institute for Biomedical Research and Innovation (IRIB-CNR), National Research Council of Italy, Palermo, Italy

Received: May 30, 2020Accepted: July 14, 2020Published: August 3, 2020

https://doi.org/10.18632/aging.103794

Copyright © 2020 Taverna et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA 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.