A novel therapeutic target for Gaucher disease

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

Gaucher’s disease (GD) due to mutations in the glucocerebrosidase gene (GBA) is divided into three clinical subtypes based on the absence (type 1) or presence (types 2 and 3) of neurological signs.  Glucosylceramide and glucosylsphingosine accumulation in the brain leads to massive neuronal loss in patients with neuronopathic GD (nGD). Vitner and colleagues found that modulating the receptor-interacting protein kinase-3 (Ripk3) pathway improves neurological and systemic disease in a mouse model of GD. Notably, Ripk3 deficiency substantially improved the clinical course of GD mice, with increased survival and motor coordination and improvements of the cerebral and hepatic phenotypes.

http://www.nature.com/nm/journal/vaop/ncurrent/abs/nm.3449.html

Posted by Nicola Brunetti-Pierri, MD, FACMG

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