Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…
GAA gene
A single dose of a specialized gene therapy has successfully normalized muscle function for more than a year in a mouse model of Pompe disease. By using “data-mined” genetic sequences designed to supercharge enzyme production specifically in muscle cells, researchers achieved protein levels up to 30 times higher than…
A therapeutic approach designed to correct the cellular defect caused by a common mutation in people with late-onset Pompe disease (LOPD) worked as intended to increase activity of the acid alpha glucosidase (GAA) enzyme in lab studies, according to a study. People with Pompe disease are lacking in…
Some individuals with limb-girdle muscular weakness, a hallmark symptom of a type of muscular dystrophy, may instead be found to have Pompe disease by genetic panel testing, according to a new study with data from more than 2,000 patients in 21 countries. That testing used next-generation sequencing, or NGS,…
Among almost 3,000 people with symptoms consistent with Pompe disease, fewer than 40 were found to carry genetic mutations known to cause the rare condition and receive a confirmed diagnosis, according to the findings of a new study that researchers say highlights the challenges of diagnosing Pompe. Importantly, the…
Several metabolic processes in Pompe disease muscles are altered, according to a detailed examination of gene activity in muscle cells from adults with late-onset Pompe disease (LOPD). The changes, many of which occur in early disease progression, included a switch from energy production based on glucose to fat-like lipids…
People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…
A powerful imaging technique called high-resolution intravital microscopy, or IVM, may be a useful tool for visualizing and quantifying the effectiveness of investigational treatments in mouse models of Pompe disease, according to recent research. The approach allows for cellular changes in muscles to be visualized in live animals. Using…
Three new mutations in the GAA gene were linked with heart disease and severe breathing problems in infants with infantile-onset Pompe disease (IOPD) in Malaysia, a study reports. “The novel mutations identified in this study expands the mutation spectrum for IOPD,” the researchers wrote. Also, among the 17 IOPD patients…
A new gene therapy for Pompe disease showed promise in a mouse model, researchers say, fully clearing in muscles the buildup of glycogen that characterizes the genetic disorder and also reducing it nearly completely in the brain. Glycogen is the stored form of glucose, or sugar — the body’s…
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