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…
Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production in Gaucher and Fabry disease patients, a study has found. The study, “Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and…
A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher disease — identified NN-DNJ and ambroxol as the most active treatments for correcting the 3D structure of the GBA protein, and helping it reach its correct location, a study has found.
Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult cells reprogrammed to a stem cell-like state that can give rise to any tissue in the human body — were…
A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported case of both diseases occurring in a patient at the same time. The study, “Coexistence of Gaucher Disease…
A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in general hematology clinics. The study, “Gaucher disease screening at a general adult hematology tertiary care centre: A prospective…
