Gaucher Disease and Heredity

Gaucher disease is an inherited, genetic disorder. People inherit two copies of every gene—one from each parent. Genes contain information about our genetic makeup, including physical characteristics such as eye color and height. All genes that an individual inherits are organized on 23 pairs of chromosomes. Chromosomes are made of DNA and are located inside the nucleus of each cell in our body. Each chromosome contains thousands of genes. See the picture below for a close-up illustration.

 

Every human being carries an estimated 8 to 10 genes in each cell of their body that are mutated, or “changed”. Some gene changes do not have much impact, but other changes may cause disease in the affected individuals. Just like normal genes, mutated genes are passed from one generation to another.

The genes for production of the enzyme glucocerebrosidase are passed from parent to child. In patients with Gaucher disease, two copies of the glucocerebrosidase gene that the individual inherited from his or her parents are both defective; thus, the glucocerebrosidase is unable to function normally.

Males and females share the risk

Humans normally have 46 chromosomes, organized in 23 pairs. One pair of chromosomes determines gender (either 2 “X” chromosomes in females, or one “X” and one “Y” chromosome in males). The other 22 pairs are called autosomes. The glucocerebrosidase genes are carried on autosomal chromosome number 1.

If a person has at least one normal glucocerebrosidase gene, then the person will not develop Gaucher disease. Doctors call Gaucher disease an ’autosomal recessive disorder’ because the glucocerebrosidase genes are carried on an autosomal chromosome and because in order to develop the disease, both copies of the gene must be mutated.

Gaucher Cells

Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »