Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with late-onset Pompe disease (LOPD), and supplementation with an amino acid as a regulator could be a “promising therapeutic approach,” according to a study. Levels of L-arginine, an amino acid that…
autophagy
A diet combining an oral ketone precursor — a molecule being studied as a dietary supplement — and a cocktail of natural antioxidant molecules boosts the efficacy of enzyme replacement therapy (ERT) at maintaining muscle strength and motor function in a mouse model of Pompe disease, a study…
The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD patients relative to healthy people, a small study shows. Autophagy is a pathway by which cells break down damaged…
Antioxidants can increase the effectiveness of enzyme replacement therapy (ERT) for Pompe disease caused by oxidative stress, the damage in cells or tissues by reactive oxygen molecules, according to a study in cells and mice. The findings also showed that enhancing autophagy — the destruction of damaged or redundant…
Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease,” was published in the journal…
A small molecule called 3-BrPA was able to lower levels of glycogen — a complex sugar that builds up to toxic levels in Pompe disease — and ameliorate muscle and heart structural defects in a new zebrafish model of the genetic disorder, a recent study has shown.
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published in the Journal of Cellular Physiology.