A new fly model of Gaucher disease may more fully summarize and present the molecular complexities of the disease in humans than other animal models do, researchers say. This recapitulated model may allow scientists to better understand disease mechanisms and design new therapeutic approaches. The fly model was described…
Mobile phone-based monitoring may allow for better measurement of how Gaucher disease affects the lives of those who have it, a new pilot study reports. The investigators suggest that such monitoring also might allow healthcare providers to improve personalized care, and could be useful in research. Titled “…
A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological conditions, including Gaucher disease type 3 (GD3), the research team that developed it said. The algorithm is described in the study “An algorithm as a diagnostic tool…
Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease with neuronal symptoms, a proof-of-concept study reports. The study, “Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic…
The case of a Gaucher disease patient who received a lung transplant to treat pulmonary hypertension calls into question assumptions about how Gaucher affects blood pressure in the lungs, researchers say. Titled “Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in…
Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone alterations in cellular models of the condition, a study found. The treatment was also effective in cell models of Fabry disease, another lysosomal storage disorder. The study, “…
A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. The study, “Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher…
Lack of a functional protein called saposin C protein and different mutations affecting its coding gene can significantly affect the severity of Gaucher disease symptoms, a study in mice shows. The study, “Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1…
Using machine-learning approaches, researchers unraveled how certain mutations in the GBA gene — responsible for Gaucher disease — affect the function of the glucocerebrosidase enzyme at the molecular level. The study with that finding, “Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep…
A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that population. The study, “Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the…