Numerous lines of evidence have shown that the interaction between the nuclear and mitochondrial genomes ensures the efficient functioning of the OXPHOS complexes, with substantial implications in bioenergetics, adaptation, and disease. Their interaction is a fascinating and complex trait of the eukaryotic cell that MitImpact explores with its third major release.
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder.
Endothelial cell (EC) dysfunction has been reported in cystic fibrosis (CF) patients. Thus, the availability of CF EC is
paramount to uncover mechanisms of endothelial dysfunction in CF. Using collagenase digestion, we isolated cells from
small fragments of pulmonary artery dissected from non-CF lobes or explanted CF lungs. These cells were a
heterogeneous mixture, containing variable percentages of EC. To obtain virtually pure pulmonary artery endothelial cells
© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma
