This gene functions by processing the vitamin folate and a deficiency of folate results in the development of spina bifida. In time research should clearly show how spina bifida develops so new treatments or even a cure can be developed.
Spina bifida is a complex condition that in most cases is likely caused by the interaction of multiple genetic and environmental factors called multifactorial inheritance.
Spina bifida genetic. Some of these factors have been identified but many remain unknown. A study looking at the dna of 1500 children with the condition and their parents found that a group of genes involved in glucose metabolism seem to have some sort of link to those who are born with spina bifida. 2 the gene that is believed to influence the chances of a child having spina bifida is the mthfr gene.
This research may also lead to new tests that help people or couples understand their chance of having a baby with spina bifida. Changes in any of many genes may influence the risk of spina bifida. Since spina bifida is a heterogeneous disease it is likely that several genes will be involved or that an entire metabolic pathway is affected in various ways.
It s a type of neural tube defect. Spina bifida is a birth defect that occurs when the spine and spinal cord don t form properly. Thus a defect in the mthfr gene may be connected to the development of spina bifida.
The neural tube is the structure in a developing embryo that eventually becomes the baby s brain spinal cord and the tissues that enclose them. Experts know that genes play a role and they are looking for the exact gene s that cause spina bifida.