Certain characteristics, such as eye colour, height, and genetic disease are passed from parents to children. The genes for these characteristics are organized on 23 pairs of chromosomes. Genes contain the blueprints that the body’s cells use to produce proteins, the building blocks of life. Each chromosome contains thousands of genes. An individual normally inherits one copy of each gene from each parent.
The genes for glucocerebrosidase – the enzyme in which all with Gaucher disease are deficient – are also passed on from parents to children. In Gaucher disease, the blueprint for the glucocerebrosidase enzyme is defective. As a result, the glucocerebrosidase produced from the defective genes is unable to perform its normal function.
A person with one normal gene and one defective gene for glucocerebrosidase is a carrier of Gaucher disease. (Approximately 1 in 10 people in the Ashkenazi population are carriers.) Such individuals will not develop the disease because as long as one of the two genes for glucocerebrosidase is normal, enough glucocerebrosidase can be produced to prevent glucocerebroside from accumulating. Although a Gaucher carrier will have no symptoms of the disease, the odds are 50:50 that the ‘Gaucher gene’ will be passed on to each of his or her children. A child will only develop Gaucher disease if he or she inherits a defective gene from both parents.
