Genes and Inherited Diseases

Although genetic factors play a part in nearly all health conditions and characteristics, there are some conditions in which the genetic changes are almost exclusively responsible for causing the condition. These are called genetic disorders, or inherited diseases.

Since genes are passed from parent to child, any changes to the DNA within a gene are also passed. DNA changes may also happen spontaneously, showing up for the first time within the child of unaffected parents. This is referred to as a new mutation, where the word mutation means change.

Sometimes this change can cause mistakes in the protein instructions, leading to production of a protein that doesn't work properly or cannot be made at all. When one protein is missing or not working as it should, it can cause a genetic disorder.

The genetics of each disorder are unique. In some cases, all the mistakes in a particular gene cause one specific genetic disorder. In other cases, different changes within the same gene can lead to different health or developmental problems or even to different genetic disorders. Sometimes changes in several similar genes may all lead to the same genetic disorder.

Genetic disorders are typically inherited (passed down) in either a dominant or recessive manner. We each have two copies of every gene on our 22 numbered chromosomes. In addition, females have two copies of all the genes on the X chromosome, whereas males have one copy of the X chromosome genes and one copy of the Y chromosome genes.

When a disorder is dominant, the disease can occur when there are DNA mistakes in only one of the two gene copies. This means that if a parent has the DNA change, there is a 50-50 chance that it will be passed on to each child.

When a disorder is recessive, there must be mistakes in both copies of the gene for the disorder to occur. This means that both parents must carry at least one copy of the specific gene change in order to produce an affected child.

If both parents have one changed copy, there is a 1 in 4, or 25% chance, that a child may inherit both changed copies at the same time, causing the disorder in the child. Parents who have only one changed gene copy usually do not display any symptoms of the disorder and may not even know they carry a gene change. Researchers estimate that we each have ("carry") 6-10 recessive gene changes. Certain recessive gene changes may be more common in different population groups. For example, sickle cell gene changes are found more often in individuals with West African ancestry and cystic fibrosis gene changes are more common in individuals with North European ancestry.

In addition to the inheritance pattern, some genetic disorders may be inconsistent when it comes to whether a person develops symptoms and their severity. Penetrance refers to whether the person who has the causative gene changes actually develops any symptoms of the disorder. Expressivity refers to the symptoms that may develop and their severity.