Are MTHFR gene mutations associated with a higher chance of developing certain diseases?

MTHFR (methylenetetrahydrofolate reductase) is a gene that provides instructions for making an enzyme of the same name. The MTHFR enzyme plays a role in activating folate and processing amino acids, the building blocks of proteins and making the body’s most important methyl donor, SAMe. 

Mutations in the MTHFR gene have been linked to an increased risk of certain diseases, including blood clots and birth defects. Some studies have also suggested a link between MTHFR gene mutations and an increased risk of certain types of cancer, heart disease, repeat miscarriages, and psychiatric disorders. 

It is important to note that having a mutation in the MTHFR gene does not necessarily mean that a person will develop these conditions. Additionally, there are other genetic, nutritional, and environmental factors that also play a role in disease risk.

Disease related to MTHFR

MTHFR gene mutations have been linked to an increased risk of certain diseases, including:

Blood clots: People with MTHFR gene mutations may have an increased risk of developing blood clots, particularly in the deep veins of the legs (deep vein thrombosis) or in the lungs (pulmonary embolism). Also, microclotting is a proposed cause for the higher risk of repeat miscarriage.

Birth defects: MTHFR gene mutations have been linked to a higher risk of neural tube defects, which are birth defects that affect the brain and spine. This could include minor midline issues such as cleft lip or cleft palate, or more serious neural tube defects like spina bifida or anacephaly.

Cardiovascular disease: Some studies have suggested that MTHFR gene mutations may be associated with an increased risk of heart disease, stroke, and other cardiovascular problems, although more research is needed to confirm these findings.

Cancer: MTHFR gene mutations may be associated with an increased risk of certain types of cancer, including colorectal, ovarian, and prostate cancer.

Psychiatric disorders: Some research suggests that MTHFR gene mutations may be associated with an increased risk of depression, anxiety, and other psychiatric disorders.

Infertility: Some studies have suggested that MTHFR gene mutations may be linked to an increased risk of infertility or sub-fertility in both men and women. This includes sperm parameters for the male partner and risk of repeat miscarriages, pregnancy complications, and birth defects for the female partner. Check the article to read all about Infertility and remedies.

Pregnancy complications: MTHFR gene mutations may be associated with an increased risk of certain pregnancy complications, such as early miscarriage, pre-eclampsia, and gestational diabetes.

Autism: Some studies have suggested that MTHFR gene mutations may be linked to an increased risk of autism, although more research is needed to confirm this association.

Migraine headaches: MTHFR gene mutations may be associated with an increased risk of migraine headaches, although the exact relationship is not well understood.

Cognitive impairment: Some studies have suggested that MTHFR gene mutations may be associated with cognitive impairment, and some types of dementia in the elderly including late onset Alzheimer’s disease.

Hyperhomocysteinemia: High levels of homocysteine in the blood, which can be caused by MTHFR gene mutations, have been associated with an increased risk of heart disease and stroke and are also associated with complications in pregnancy, and Alzheimer’s disease.

Schizophrenia: Some studies have suggested that MTHFR gene mutations may be associated with an increased risk of schizophrenia, a serious mental illness that affects how a person thinks, feels, and behaves.

Depression: MTHFR gene mutations may be associated with an increased risk of depression, a common mental health disorder characterized by feelings of sadness, hopelessness, and a loss of interest in activities.