Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

This database includes the raw data linked with the paper “ Polymorphism in exercise genes and respiratory function in late-onset Pompe disease ” published on “JOURNAL OF APPLIED PHYSIOLOGY”. In this paper, we reported the influence of polymoprhisms in exercise genes and muscle metabolism, on the clinical phenotype of late onset pomep disease, especially on the respiratory phenotype

We included 43 patients with LOPD (25 males, age 50.8 ± 13.6 yr) with a 2-yr follow-up since the beginning of enzyme replacement therapy (ERT). Twenty-two patients showed a postural drop >25% T0, seven other patients developed it during the follow-up. We analyzed the relationship between the progression of respiratory dysfunction and genetic polymorphisms affecting muscle function and structure [angiotensin converting enzyme (ACE), a-actinin 3 (ACTN3), peroxisome proliferator-activated receptor a (PPR-a), angiotensin (AGT)], glycogen metabolism [glycogen synthase (GYS), glycogen synthase kinase-3 isoform b (GSK3b)], and autophagy [sirtuin 1 (SIRT1), autophagy-related gene 7 (ATG7)].

ACE-DD and ACTN3-XX polymorphisms, possibly influencing muscle properties and fiber composition, were associated with more severe respiratory phenotypes