Pompe disease: pathogenesis, molecular genetics and diagnosis.

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.

Circulating miRNAs in Successful and Unsuccessful Aging. A Mini-review.

Aging is a multifactorial process that affects the organisms at genetic, molecular and cellular levels. This process modifies several tissues with a negative impact on cells physiology, tissues and organs functionality, altering their regeneration capacity. The chronic low-grade inflammation typical of aging, defined as inflammaging, is a common biological factor responsible for the decline and beginning of the disease in age. A murine parabiosis model that combines the vascular system of old and young animals, suggests that soluble factors released by young individuals may improve the regenerative potential of old tissue. Therefore, circulating factors have a key role in the induction of aging phenotype. Moreover, lifestyle can influence the physiological status of multiple organs, via epigenetic mechanisms. Recently, microRNAs are considered potential sensors of aging.