Gaucher disease is an inherited metabolic condition that affects organs including the spleen and the liver as well as the bones. Accumulation of a complex fat molecule — glucocerebroside — in these areas is responsible for the symptoms of the disease. It is the result of a mutation in the GBA gene.

The GBA gene

The GBA gene is located on chromosome 1. It carries the instructions to make the enzyme beta-glucocerebrosidase.

Within a cell, there are structures called lysosomes that serve as recycling or housekeeping centers. Lysosomes help in the breakdown of toxic substances and recycle cell components that have served their function. They contain several enzymes responsible for digesting different biological materials. Beta-glucocerebrosidase is one such enzyme. It is responsible for breaking down glucocerebroside — lipids that make up the membrane lining surrounding the cells. After cell death, glucocerebroside is broken down so it can be used when new cells are made. In the lysosomes, beta-glucocerebrosidase breaks down glucocerebroside into glucose and a simple fat molecule called ceramide, which can be reused by the cells.

How mutations in the GBA gene cause Gaucher disease

A mutation in the GBA gene causes insufficient levels of the beta-glucocerebrosidase enzyme to be made. As a result, glucocerebroside breakdown is inefficient and it accumulates in the body. There is an abnormal buildup of glucocerebroside, especially in the spleen and the liver, causing these organs to become enlarged. Glucocerebroside accumulation can also affect the bone marrow, resulting in blood disorders such as anemia and thrombocytopenia, or low platelet count. In certain types of Gaucher disease, glucocerebroside buildup can also affect the central nervous system.

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