Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

MTHFR gene mutation

*

* Not a rare disease

Other Names for this Disease

  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine.[1][2] Some rare MTHFR gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly).[2][3] Other more common MTHFR gene mutations (known as C677T and A1298C) lead to a milder reduction in enzyme function. People with two copies of C677T or one copy of C677T and one copy of A1298C may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Although C677T and A1298C mutations can be associated with an increased risk, many people who inherit them will never develop one of the associated conditions.[4][2][1]
Last updated: 12/10/2014

References

  1. Varga EA, Sturm AC, Misita CP, Moll S. Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease. Circulation. 2005; 111:e289-e293. http://circ.ahajournals.org/content/111/19/e289.full. Accessed 9/18/2012.
  2. MTHFR. Genetics Home Reference. November 2014; http://ghr.nlm.nih.gov/gene/MTHFR.
  3. Homocystinuria. Genetics Home Reference. July 2011; http://ghr.nlm.nih.gov/condition/homocystinuria.
  4. MTHFR Mutation. Lab Tests Online. April 2014; http://labtestsonline.org/understanding/analytes/mthfr/tab/test.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on MTHFR gene mutation have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MTHFR gene mutation. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.