Gaucher Disease is a lysosomal storage disease characterized by a build up of glucocerebrosides. It is an inherited disease that can affect many of the body's organs. The gene that the mutation occurs in is called Glucosylceramidase Beta or GBA, and this gene produces the protein glucocerebrosidase, which helps cells dispose of certain lipids.
The disease is inherited in an autosomal recessive pattern, which means that both copies of the gene has the mutation. The parents of a patient with Gaucher Disease carries the gene for the disease, but symptoms for it don't show up.
Symptoms Include: liver and spleen enlargement, production of red blood cells decreasing, frequent bleeding and bruising, lung disease, bone abnormalities (bone pain, fractures, arthritis, etc.).
After the symptoms start to show up, the following tests are taken to diagnose the disease. The tests include: a blood test (to check for enzyme activity), Spleen Biopsy, MRI, and Genetic testing. The test result determines if a person has Gaucher Disease. With treatment like enzyme replacement therapy, the patient should have a normal life expectancy.
Gaucher Disease was first discovered in 1882 by a French medical student, Phillipe Charles Ernest Gaucher. In his doctor thesis, he described a woman with an enlarged spleen. After an postmortem exam, it revealed that the cells in the spleen had been enlarged. The enlarged Gaucher cells and spleen now help doctors and physicians diagnose people with Gaucher Disease.
Researchers are currently testing out gene therapy as a permanent cure for Gaucher's Disease. Through gene therapy, normal GBA will be introduced to affected cells. and produce a sufficient amount of glucocerebrosidase. When the protein is produced, the cell will be able to dispose of the excess lipids. Although research is ongoing, it is going to take a long time before it becomes available to the public.