People with the rare genetic condition called Gaucher’s disease have an accumulation of a kind of lipid called a glucocerebroside. These substances gather in the liver, spleen, lungs, bone marrow, and, in severe cases, even the brain, progressively interfering with normal functioning. Patients with Gaucher’s disease have skeletal abnormalities, enlargement of the liver or spleen, and anemia. The most common and mildest from has no other symptoms and is most common in adults. The rarest and most severe kind involves the brain, and there the fatty deposits cause dementia, seizures, and cognitive deficits. This type begins in infancy, and patients generally do not live past two or three years old. The third type also causes mental disability, but begins later, in adolescence.
Collectively, the types of Gaucher’s disease affect about one in 50,000 people. These people inherit a genetic abnormality that means their bodies do not manufacture an enzyme that breaks down glucocerebrosides and prevents them from accumulating. The substance itself is produced by the body and is important skin function. Normally, the enzyme is used to dissolve the glucocerebroside once it has served its purpose, but when the enzyme is absent, the glucocerebroside remains in the body. The disease is recessive, meaning it only strikes people who have inherited the defective gene from each parent; about one in 100 people is an asymptomatic carrier with one copy of the gene.
The mildest forms of the disease doesn’t always require treatment. One treatment that is used is enzyme replacement therapy. This breaks down the lipids accumulated in the body, thus reducing organ enlargement and repairing the bones. However, it does do as much to alleviate the neurological effects of the third type of Gaucher’s disease. In severe cases, a bone marrow transplant can provide relief, but this is a high-risk procedure and is rare.
Recently, stem cell research has been used to explore the causes of, and possible new treatments for, Gaucher’s disease. Stem cell models are used for all three types of the disease, allowing for the creation in the lab of cells that mimic the behavior of cells in Gaucher patients and allowing new therapies to be tested. In particular, medical researchers are looking into ways to make the bodies of people born with the deficiency function normally. This holds out hope for treating even the most severe form of the disease.