The gene MTHFR is a methyltransferase enzyme that can cause thrombophilia, hypermethioninemia, and neurologic abnormalities in some people. Among these conditions, Methyl-folate deficiency is one of the leading causes of neurological disorders. However, many patients do not know that they have this defect.
Thrombophilia
Thrombophilia caused by gene MTHFR mutations is an inherited thrombophilia that is characterized by elevated levels of factor VIII. Genetically, the disorder is caused by a defect in the protein C/protein S regulatory system. Click here for more information.
The researchers at the University of Leiden first described a single amino acid substitution as the cause of this condition. Their study marked a paradigm shift in the diagnosis of the disease from one involving physical examination and blood tests, to a gene-based approach.
The prevalence of inherited thrombophilia is estimated to be one in 1000 individuals worldwide, with rates rising as individuals age. However, there are still several heritable thrombophilia that are undiscovered.
One study conducted in 1998 reported an increased incidence of thrombophilic defects, including factor V Leiden. Four out of fifteen patients with protein S deficiency had the second defect. Therefore, it appears that individuals with two or more defects are at an increased risk of thrombosis.
There is no definitive association between MTHFR C677T and coronary artery disease, although it has been associated with increased risk of CAD and hypertension. However, in the U.S., the DNA MTHFR C677T polymorphism is associated with a significant risk of hypercholesterolemia and hyperhomocysteinemia. These studies are encouraging, as they suggest that the DNA MTHFR mutation C677T may be a cause of thrombophilia.
Thrombophilia is a complex inherited and acquired condition. It can be caused by mutations or polymorphisms in DNA involved in blood clotting and/or the venous circulation. In some cases, the condition can lead to other conditions, such as Legg-Calve-Perthes disease and pulmonary embolism. DNA thrombophilia is associated with a high risk of MI.
In most cases, patients with thrombophilia have no symptoms or complications. While this is a rare syndrome, there are several occurrences in unrelated families that have been reported in the literature. There are currently no definitive treatments for thrombophilia due to DNA MTHFR mutations. There is no cure for thrombophilia, but treatment with anticoagulants is an option.
Hypomethioninemia
Previously, it was not known if a MTHFR gene deficiency was responsible for early-onset hypomethioninemia. Now, this deficiency can be diagnosed in both adults and adolescents. The clinical picture is often incomplete, and further tests for underlying neuro-psychiatric conditions should be considered. The earlier the condition is diagnosed, the better.
Two heterozygous point mutations were identified in this gene. One was a synonymous mutation (Arg388Cys) in exon 7 and the other was a stop-loss mutation (c.1970G>C). The paternal mutations were also confirmed as pathogenic.
The two mutations were associated with different symptoms. However, the clinical manifestation of hypomethioninemia due to gene MTHFR mutation is unknown and should be taken with caution. Consult with a doctor for more information.
Neonates with severe MTHFR deficiency present with a range of symptoms, including hypotonia and feeding problems. They may also experience sleep apnea. Some cases have epilepsy.
The symptoms of epilepsy may include head nodding syndrome and complex focal seizures. Rarely, patients may experience hydrocephalus. The earliest diagnosis is the most important.
Patients with this deficiency have severe neurological symptoms, and the disease can cause developmental delay. Infants often exhibit reduced consciousness and lower limb spasticity, while older children and adolescents often present with respiratory failure and seizures.
A DNAtic test can detect the underlying cause. While MTHFR deficiency is rare, the symptoms are life-threatening and can impair a child’s quality of life.
In children, MTHFR deficiency is caused by a DNAtic defect that affects the synthesis of folate and folic acid. This deficiency results in moderately low plasmatic folate levels. Individuals with this disorder also have hyperhomocysteinemia and hypomethioninemia, but the majority of cases are neurological. This condition can lead to other conditions as well, including vascular abnormalities.
Neurological abnormalities
Genetic testing for this deficiency may be performed to confirm the existence of an MTHFR deficiency. Click the link: https://www.cdc.gov/genomics/gtesting/genetic_testing.htm to find out more about genetic testing. People with a deficiency of the MTHFR DNA have a number of comorbidities.
Hyperhomocysteinemia, a condition characterized by elevated homocysteine levels, may occur as a result of a mutation in the MTHFR DNA. This condition has other consequences, including thromboembolic disease and vasculopathy.
In a patient with NF1, a test for the genetic marker could indicate the presence of a comorbid condition. NF1 can lead to stroke, and the C677T gene mutation is often detected in young stroke patients. The case’s genetic testing should also include a dermatologic examination to rule out other causes of stroke. The presence of a C677T mutation is an etiologic reason for the stroke.
