Causes of Gaucher Disease

 

Gaucher disease is hereditary

People inherit two copies of each gene, one from each parent. The genes contain information about our genetic material, for example physical characteristics such as the color of the eyes or body height. All genes that a person inherits are accommodated in 23 pairs of chromosomes. Each chromosome contains thousands of genes.
Every person has an estimated 8 to 10 modified (mutated) genes. Some mutations of genes do not have a major impact, but other mutations can cause disease to the person in question. Like normal genes, mutated genes can be passed on from one generation to another. The genes for the production of the enzyme glucocerebrosidase are transferred by the parents to their children. In the case of Gaucher disease, the blueprint for this enzyme shows deficiencies; consequently, the enzyme glucocerebrosidase cannot function normally.

 

 

 

 

Gaucher disease is hereditary

People inherit two copies of each gene, one from each parent. The genes contain information about our genetic material, for example physical characteristics such as the color of the eyes or body height. All genes that a person inherits are accommodated in 23 pairs of chromosomes. Each chromosome contains thousands of genes.
Every person has an estimated 8 to 10 modified (mutated) genes. Some mutations of genes do not have a major impact, but other mutations can cause disease to the person in question. Like normal genes, mutated genes can be passed on from one generation to another. The genes for the production of the enzyme glucocerebrosidase are transferred by the parents to their children. In the case of Gaucher disease, the blueprint for this enzyme shows deficiencies; consequently, the enzyme glucocerebrosidase cannot function normally.

 

 

Who is a Gaucher carrier?

A person with one defective gene and one normal gene for glucocerebrosidase is carrier of Gaucher disease. Carriers do not get the disease themselves because one of their two genes for glucocerebrosidase is normal, so that enough enzyme is produced to prevent glucocerebroside from accumulating. Although carriers of Gaucher do not show symptoms of the disease, chances are that they pass on the "Gaucher gene" to one of their children 50:50.

 

What is the chance of having children who are suffering from Gaucher disease or who are carriers?

  • When both parents have normal genes for glucocerebrosidase, their children inherit two normal genes, one from each parent. When both parents suffer from Gaucher disease, all their children inherit the two "Gaucher genes" and consequently also the disease.

 

  • A child of which only one parent is a carrier has a 50% chance of becoming a carrier. If both parents are carriers of Gaucher disease, there is a 50% chance of having the child inherit one Gaucher gene from each parent and carrier, or a 25% risk of getting Gaucher's disease. This means that parents who are carriers with every pregnancy have a 3 in 4 (75%) chance of having a child who does not have Gaucher disease.
  • With every pregnancy, the chance to inherit Gaucher's disease is completely independent of whether a previous child is suffering from the disease or not. When a child is suffering from Gaucher disease, this does not mean that the next child cannot inherit the disease. It also does not mean that the next child will have the disease.

 

  • If only one parent suffers from Gaucher disease and the other parent does not have the disease and is not a carrier, all children inherit the Gaucher gene from the parent who suffers from the condition and become a carrier. However, none of the children will get the disease.
  • If one of the parents suffers from Gaucher disease and the other parent is a Gaucher carrier, then there is a 50% chance that they will have a child that inherits a "Gaucher gene" from each parent and thus receives the disease. There is also a 50% chance of a child who inherits the "Gaucher gene" from only one parent and becomes a carrier. See the figure below.

Is there a test to detect the heredity of Gaucher's disease?

Since Gaucher disease is a genetic disorder, all offspring of people with Gaucher disease run the risk of developing the disease, or they are potential carriers of the "Gaucher gene". Families with a history of Gaucher disease can discuss the possibility of a genetic test with their doctor. A blood test can show whether a person is suffering from Gaucher disease or carrier. Prenatal tests for Gaucher disease can also be performed early in the pregnancy. Couples who are carriers or who have a history of Gaucher disease in the family can also rely on genetic advice.