Spina bifida (spina bifida) - Gen MTHFR.

Spina bifida is a condition in which the neural tube does not close completely during the first weeks of embryonic development. Consequently, when the spine is formed, the bones of the spine do not close completely around the spinal espinar developing. Of the spinal cord may protrude through an opening in the spine, causing permanent nerve damage. Because spina bifida is due to neural tube defects, it is classified as a neural tube defect.

Children born with spina bifida usually have a fluid - filled sac covered by skin on the back, called meningocele. If the bag contains part of the spinal cord and its protective cover, he is known as myelomeningocele. Signs and symptoms of these anomalies ranging from mild to severe, depending on where the opening in the spine and which part of the spinal cord is affected. Some problems may include a loss of sensation below the level of the opening, weakness or paralysis of feet and legs, and problems control bladder and bowel. Some affected individuals have additional complications, including hydrocephalus and learning problems. With surgery and other forms of treatment, many people with spina bifida live in adulthood.

In a milder form of the disease called spina bifida occulta, the bones of the spine are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike the more severe form of spina bifida, nerves do not stick out through an opening in the spine. Often hidden spina bifida does not lead to health problems, although rarely can cause back pain or change in bladder function.

Spina bifida is a complex disorder that is likely due to the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with spina bifida and their mothers can influence the risk of developing this type of neural tube defect. The best studied gene is the MTHFR gene, located on the short arm of chromosome 1 (1p36.3). This gene encodes an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing of amino acids. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of folic acid (vitamin B9) vitamin. Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate 5- methyltetrahydrofolate molecule. This reaction is required for multi - step process that converts the amino acid homocysteine in the amino acid methionine. The body uses methionine to produce proteins and other important compounds.

Polymorphisms in the MTHFR gene are associated with increased risk of spina bifida. Variations in the MTHFR gene may increase the risk of neural tube defects by changing the capacity to process methylenetetrahydrofolate reductase Folate. However, these variations are common in many populations worldwide. Most people with MTHFR gene polymorphisms have NTD.

Most cases of spina bifida are sporadic, meaning that occur in people with no history of disease in your family. It described a small percentage of cases in families. However, the disease has no clear pattern of inheritance. First - degree relatives such as siblings and children, people with spina bifida have an increased risk of the disease compared with people in the general population.

Tests in IVAMI: in IVAMI perform detection of mutations associated with spina bifida, by complete PCR amplification of the exons of the MTHFR gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).