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Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Francisco España Furió

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Research Centre or Institution : Hospital Universitario La Fe. Valencia.


Gaucher's disease (GD) is a rare lysosomal storage disease characterised by visceromegalies, growth retardation and skeletal and neurological abnormalities. It is due to mutations in the glucocerebrosidase gene (GBA) that catalyses the hydrolysis of glucosylceramide (GlcCer). The great phenotypic variability observed among patients with GD has suggested the contribution of other factors such as variations in the GlcCer synthase enzyme. This study seeks to explain this phenotypic variability. To do this, first both the GBA gene mutations and the variations in the promoter of GlcCer synthase are analysed in patients with GD. In the latter variant, a study is being conducted using functional luciferase reporter genes. On the other hand, we are evaluating the changes observed in osteoclasts derived from monocytes of patients and in osteoclastogenesis, when the pharmacological molecules used in the treatment of GD are fed to the culture medium. Finally, the findings observed will be related in vitro with the clinical features and therapeutic response of patients.

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