MTHFR gene mutation

Common Name(s)

MTHFR gene mutation

The MTHFR gene provides instructions for the body to make an enzyme called methylenetetrahydrofolate reductase. Normally, this enzyme changes an amino acid (homocysteine) into another amino acid (methionine). A severe decrease in the methylenetetrahydrofolate reductase enzyme, due to MTHFR mutations, can cause the homocysteine level in the blood and urine to be high (homocystinuria) and the methionine level to be low. In severe cases, this may increase the risk for nearsightedness (myopia), dislocation of the lens of the eye, abnormal blood clotting, brittle bones (osteoporosis), and learning problems. However, most MTHFR mutations are not associated with health issues.

Some common MTHFR gene changes are thought to increase the risk of other health complications, including certain birth defects that affect the brain and spinal cord of a baby (neural tube defects) as well as increase the risk of common health issues, such as heart disease, high blood pressure, stroke, and certain types of cancers. However, researchers have not been able to prove a strong connection between common MTHFR gene changes and an increased risk for these health issues.

MTHFR mutations are inherited in an autosomal recessive manner. People have two copies of the MTHFR gene and, in order to have homocystinuria, a person needs to have a mutation in both copies. If you or your child has been diagnosed with MTHFR gene mutations, talk to a doctor to decide if medical management is needed. Support groups are a good resource for additional information.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "MTHFR gene mutation" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "MTHFR gene mutation" returned 9 free, full-text research articles on human participants. First 3 results:

Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy.
 

Author(s): Serbulent Yigit, Nevin Karakus, Ahmet Inanir

Journal:

 

Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. Methylenetetrahydrofolate reductase (MTHFR) gene variants have been associated with vasculopathy that has been linked to diabetic neuropathy. The aim of the present study was to investigate ...

Last Updated: 31 Dec 1969

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MTHFR gene C677T mutation and ACE gene I/D polymorphism in Turkish patients with osteoarthritis.
 

Author(s): Ahmet Inanir, Serbulent Yigit, Sengul Tural, Osman Cecen, Eren Yildirim

Journal: Dis. Markers. 2013 ;34(1):17-22.

 

Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was ...

Last Updated: 31 Dec 1969

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Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation.
 

Author(s): Elisa Fabbri, Lisa Rustignoli, Antonio Muscari, Giovanni M Puddu, Maria Guarino, Rita Rinaldi, Elena Minguzzi, Giacomo Caio, Marco Zoli, Umberto Volta

Journal: World J. Gastroenterol.. 2012 Jul;18(26):3472-6.

 

Celiac disease (CD) is frequently associated with neurological disorders, but very few reports concern the association with ischemic stroke. A 26-year-old woman affected by CD with secondary amenorrhea, carrier of a homozygous 5,10-methylenetetrahydrofolate reductase mutation with ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "MTHFR gene mutation" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.