What is the underlying genetic mutation associated with Gaucher Disease?

Gaucher Disease is primarily associated with a mutation in the GBA gene, which encodes the enzyme glucocerebrosidase. This enzyme is critical for the metabolism of glucocerebrosides, a type of lipid. When the GBA gene is mutated, the production of functional glucocerebrosidase enzyme is compromised, leading to the accumulation of glucocerebrosides in macrophages. This accumulation causes the various symptoms associated with Gaucher Disease, including organ enlargement, bone pain, and hematological issues.

The other listed genes correspond to different lysosomal storage disorders. For instance, GALC is associated with Krabbe Disease, HEXB is linked to Sandhoff Disease, and IDUA is responsible for Mucopolysaccharidosis type I (Hurler Syndrome). These genes encode enzymes involved in different metabolic pathways, underscoring the specificity of genetic mutations for particular diseases. Thus, the identification of GBA as the mutation associated with Gaucher Disease is confirmed by its direct involvement in the pathophysiology of the disorder.