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Variants and Health →
How can gene variants affect health and development?
URL of this page: https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/

How can gene variants affect health and development?

To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene variants (also known as mutations) prevent one or more proteins from working properly. By changing a gene’s instructions for making a protein, a variant can cause a protein to malfunction or to not be produced at all. When a variant alters a protein that plays a critical role in the body, it can disrupt normal development or cause a health condition. A condition caused by variants in one or more genes is called a genetic disorder.

In some cases, gene variants are so severe that they prevent an embryo from surviving until birth. These changes occur in genes that are essential for development, and often disrupt the development of an embryo in its earliest stages. Because these variants have very serious effects, they are incompatible with life.

It is important to note that genes themselves do not cause disease—genetic disorders are caused by variants that alter or eliminate a gene’s function. For example, when people say that someone has “the cystic fibrosis gene,” they are usually referring to a version of the CFTR gene that contains a variant that causes the disease. All people, including those without cystic fibrosis, have a version of the CFTR gene.

For more information about variants and genetic disorders:

The National Human Genome Research Institute (NHGRI) offers an introduction to genomics.From the National Institutes of Health

The Centers for Disease Control and Prevention (CDC) provides basic genetic concepts.

The Centre for Genetics Education offers a fact sheet about genetic changes.

Topics in the Variants and Health chapter

  • What is a gene variant and how do variants occur?
  • How can gene variants affect health and development?
  • Do all gene variants affect health and development?
  • What kinds of gene variants are possible?
  • Can a change in the number of genes affect health and development?
  • Can changes in the number of chromosomes affect health and development?
  • Can changes in the structure of chromosomes affect health and development?
  • Can changes in noncoding DNA affect health and development?
  • Can changes in mitochondrial DNA affect health and development?
  • What are complex or multifactorial disorders?
  • What does it mean to have a genetic predisposition to a disease?
  • How are gene variants involved in evolution?
  • What information can statistics provide about a genetic condition?
  • How are genetic conditions and genes named?

Other chapters in Help Me Understand Genetics

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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