What does it mean if you have the MTHFR gene?

At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems.

What is MTHFR A1298C gene mutation?

The A1298C mutation, like the C677T mutation, results in a decrease in MTHFR activity that is more pronounced in the homozygous (CC) than in the heterozygous (AC) or normal (AA) states, and does not result in a thermolabile protein.

Is Homocysteinemia genetic?

Hyperhomocysteinemia may be either a genetic or an acquired characteristic. Homocysteine is an intermediary in the breakdown pathway from methionine to cysteine. Homocysteine may be converted to cysteine, a process known as transsulfuration, through the use of vitamin B6 as a cofactor.

What is MTHFR polymorphism?

A common polymorphism in the gene coding for the 5,10-methylene tetrahydrofolate reductase (MTHFR) (C677T, Ala –> Val) is associated with a decreased activity of the enzyme due to thermolability.

What are the signs and symptoms of MTHFR?

Symptoms of an MTHFR gene mutation

• ADHD (Attention Deficit Hyperactivity Disorder)
• Autism.
• Autoimmune disease and thyroid issues.
• Cardiovascular disease.
• Chronic fatigue.
• Colon Cancer.
• Digestive issues , including IBS (Irritable Bowel Syndrome)
• Hormonal issues, including PCOS (Polycystic Ovary Syndrome)

What blood test shows MTHFR?

The methylenetetrahydrofolate reductase (MTHFR) mutation test may be used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood.

What does it mean to be positive for two copies of the A1298C mutation?

If a person has two copies (homozygous) of MTHFR C677T, or has one copy of C677T and one of A1298C, then it is likely that elevated homocysteine levels are due to these inherited mutations, or that the mutations are contributing to them.

What does it mean to be heterozygous for the A1298C variant?

Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11).

How is Homocysteinemia diagnosed?

A homocysteine test is a blood test. It measures the amount of homocysteine, an amino acid in the body. The test is often used to diagnose vitamin B6, B9 or B12 deficiency. People with elevated homocysteine may have a higher risk for cardiovascular disease.

What are symptoms of hyperhomocysteinemia?

Elevated homocysteine symptoms

• pale skin.
• weakness.
• fatigue.
• tingling sensations (like pins and needles) in the hands, arms, legs, or feet.
• dizziness.
• mouth sores.
• mood changes.

How is MTHFR diagnosed?

Diagnosis. A doctor can determine whether or not a person has an MTHFR variant by reviewing their medical history, considering their current symptoms, and performing a physical examination. The doctor may recommend running a blood test to check the person’s homocysteine levels.

What are the signs of MTHFR?

What does MTHFR A1298C heterozygous mean?

What does it mean to be heterozygous for MTHFR A1298C?

Some people have a genetic mutation in 1 or both of their MTHFR genes. People with a mutation in 1 MTHFR gene are are said to be heterozygous; if mutations are present in both genes, the person is said to be homozygous or compound heterozygous for the mutation(s).

What is MTHFR A1298C homozygous?

Being homozygous for MTHFR A1298C leads to 60% of normal enzyme function. People may also have 1 abnormal MTHFR C677T gene plus 1 abnormal MTHFR A1298C gene; this is termed double heterozygous. Decreased enzyme function may also result.

How do you test for hyperhomocysteinemia?

A healthcare provider such as a nurse, doctor, phlebotomist or laboratory technician takes a blood sample for the test. Then, staff in a laboratory measure the level of homocysteine in the blood.

What is the difference between homocystinuria and Homocysteinemia?

Homocysteine is an intermediary amino acid formed by the conversion of methionine to cysteine (figure 1). Homocystinuria is a rare autosomal recessive disorder characterized by severe elevations in plasma and urine homocysteine concentrations.