Fact 11: Gaucher’s Disease – The Battle Inside the Cells
At the heart of Gaucher’s Disease lies a cellular struggle. This is a story not of organs or symptoms, but of the microscopic processes occurring within the cells, processes that hold the key to understanding this disease.
For a person without Gaucher’s Disease, the body produces an enzyme called glucocerebrosidase. This enzyme plays a vital role in breaking down a fat molecule, glucocerebroside, into glucose and ceramide, substances that the body uses for various functions.
However, in people with Gaucher’s Disease, the body either doesn’t produce enough of this enzyme or produces an enzyme that doesn’t function correctly. This glitch in cellular operations causes the fat molecule, glucocerebroside, to accumulate in the cells, specifically those called macrophages, turning them into so-called Gaucher cells.
These Gaucher cells, stuffed with excess glucocerebroside, can’t function correctly and accumulate in various parts of the body, leading to the broad range of symptoms associated with the disease. From the liver and spleen to the bones and, in some cases, the brain, no part of the body is immune to these malfunctioning cells. (11)
