Gaucher Disease caused by the gene GBA

Gaucher Cell

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.

The rate of incidence for the world is 1 in 50,000 to 1 in 100,000. There are fewer than 200 cases of Gaucher's Disease in the U.S.A. Gaucher Disease affects the Eastern/Central European Jewish heritage more than other population of people. About 1 in 500-1,000 people of this heritage are affected.

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.

Phillipe Charles Ernest Gaucher

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.


Anderson, Hans C. “Prevalence of Type 1 Gaucher Disease in the United States.” The Jama Network, doi:10.1001/archinternmed.2007.128. Accessed 4 Feb. 2017.

Areas of where Gaucher Cells can be Found. 2017. Gaucher Association, Accessed 5 Feb. 2017.

Base Pairing. 2017. CREDO, Accessed 5 Feb. 2017.

DNA. 2015. DRUG, Accessed 5 Feb. 2017.

DNA. 2014. Youtube, Accessed 5 Feb. 2017. This image is from a video on youtube.

“Future Research.” Gaucher Care, Genzyme Corp., 2017, Accessed 4 Feb. 2017.

Gaucher Cells. 2015. Neuropathology, Accessed 5 Feb. 2017.

“Gaucher Disease.” U.S National Library of Medicine, U.S Department of Health and Human Services, 31 Jan. 2017, Accessed 4 Feb. 2017.

“Is there a Disease?” Researching Disease: Dr.Roscoe Brady and Gaucher Disease, Office of NIH History, 2016, Accessed 4 Feb. 2017.

“GBA glucosylceramidase beta.” NCBI, U.S National Library of Medicine, 2017, Accessed 5 Feb. 2017.


Created with images by ColiN00B - "dna dns biology"

Made with Adobe Slate

Make your words and images move.

Get Slate

Report Abuse

If you feel that this video content violates the Adobe Terms of Use, you may report this content by filling out this quick form.

To report a Copyright Violation, please follow Section 17 in the Terms of Use.