From the article at MedlinePlus (part of NIH)
It is well established that changes in genes can alter a protein's function in the body, potentially causing health problems. Scientists have determined that changes in regions of DNA that do not contain genes (noncoding DNA) can also lead to disease.
Many regions of noncoding DNA play a role in the control of gene activity, meaning they help determine when and where certain genes are turned on or off.
Other regions of noncoding DNA are important for protein assembly.
By altering one of these regions, a variant (also known as a mutation) in noncoding DNA can turn on a gene and cause a protein to be produced in the wrong place or at the wrong time.
Alternatively, a variant can reduce or eliminate the production of an important protein when it is needed.
Not all changes in noncoding DNA have an impact on health, but those that alter the pattern of a critical protein can disrupt normal development or cause a health problem.
The same types of genetic changes that occur in genes or that alter the structure of chromosomes can affect health and development when they occur in noncoding DNA. These alterations include changes in single DNA building blocks (substitution variants), insertions, deletions, duplications, and translocations. Noncoding DNA variants can be inherited from a parent or acquired during a person's life.
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