MTHFR Mutations: Revealing Causes For Breast Cancer, Autoimmune Disease

MTHFR Mutations: Revealing Causes For Breast Cancer, Autoimmune Disease

The latest reports address some potential genetic mutations that can lead to breast cancer, autoimmune disease and more. Take a look at the interesting data that we found.

MTHFR mutations

The MTHFR gene is responsible for producing an enzyme that plays a crucial role in metabolizing folate and other important B vitamins. However, a mutation in the MTHFR gene can impair this process, leading to difficulties in processing vitamin B efficiently.

This can result in increased levels of homocysteine, an amino acid that has been linked to various health conditions, including heart disease. In order to regulate homocysteine levels, it is important to have healthy, functional MTHFR genes and access to bioavailable folate.

Folate is crucial for DNA production and repair, and it plays a vital role in methylation, a biochemical process that impacts energy and detoxification. It aids in the creation of glutathione, an antioxidant that helps eliminate toxins from the body.

Each person has two MTHFR genes, one from each parent. If only one gene is mutated, it is referred to as a heterozygous mutation. If both genes are mutated, it is known as a homozygous mutation.

The most common MTHFR variations are labeled as C677T and A1298C.

A 2015 article in Circulations reported that about 20-40% of white and Hispanic individuals in the United States are heterozygous for MTHFR C677T. The mutation is less prevalent in black people, affecting only 1-2%. MTHFR is associated with a higher risk of various health conditions.

Cardiovascular Disease

Studies have shown that certain variations in the MTHFR gene may increase the risk of ischemic stroke, which is caused by a blockage in blood flow to the brain. In a 2020 study published in Brain Sciences, researchers conducted a cross-sectional analysis of 67 patients who had experienced acute cardioembolic stroke due to a blood clot in the brain.

The study revealed that individuals with the MTHFR genetic defect had higher diastolic blood pressure and cholesterol levels.

Breast Cancer

A 2021 review published in Genes found that the C677T mutation was tied to higher breast cancer risk in white and Asian women.

Autoimmune Diseases

A 2022 systemic review and meta-analysis in Disease Markers showed some MTHFR genetic defects have been reportedly associated with an increased risk of autoimmune diseases.
“Specifically, the MTHFR 677 C/T was a risk factor for Behcet’s disease, a disease of inflammation and swelling in blood vessels, and multiple sclerosis. Additionally, 1298 A/C was a risk factor for multiple sclerosis.”


Autism is a range of conditions that can impact communication and behavior, typically emerging before the age of 2.

A recent study conducted in 2020, which reviewed and analyzed data on autism spectrum disorder, found a notable connection between the variations in the MTHFR gene, specifically the document_number_1 and document_number_2 mutations, and a heightened risk of developing autism.

These mutations can impact the methylation process, which plays a role in neurotransmitter synthesis.

This can potentially alter neurotransmitter levels, which can affect the development and function of the brain.

Anxiety and Depression

A case report published in the International Journal of Scientific Research and Management in 2021 highlighted a viable alternative treatment that successfully helped a 32-year-old man diagnosed with major depressive disorder.

The patient had been undergoing psychiatric treatment for two years and eight months before trying this alternative approach.

Rada Mateescu

Passionate about freedom, truth, humanity, and subjects from the science and health-related areas, Rada has been blogging for about ten years, and at Health Thoroughfare, she's covering the latest news on these niches.

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