Re: SLC5A5 Gene and iodide uptake

[Guest guest]

Joan,

Thanks for your post.

How do we compensate for this defect? Can we take more salt and iodine to overcome this?

I have a goiter, I think it showed up about two years after my GI tract scan.

mei

[Guest guest]

I believe that congenital hypothyroidism only applies to those diagnosed as hypthyroid from birth. So I am not sure that this defect would apply to those that develop it later in life.

Steph

SLC5A5 Gene and iodide uptake

Hi,Parts of this have been posted previously but I didn't see the part about how this gene mutation can impair iodide uptake. Is this something we should consider? If one has this mutated gene, does it mean that their body isn't using the iodide in our Lugol's?"How are changes in the SLC5A5 gene related to health conditions?congenital hypothyroidism - caused by mutations in the SLC5A5 geneSeveral SLC5A5 gene mutations have been identified in people with congenital hypothyroidism. About half of these mutations delete part of the SLC5A5 gene or disrupt protein production, resulting in an abnormally small, nonfunctional protein. The remaining mutations change one of the building blocks (amino acids) used to make the NIS protein. Some amino acid substitutions prevent the NIS protein from being positioned in the cell membrane, disabling iodide transport. Other amino acid substitutions do not affect the membrane location of the NIS protein but change the protein's 3-dimensional shape, which impairs its function.SLC5A5 gene mutations reduce or prevent iodide transport. As a result, the thyroid gland cannot accumulate iodide efficiently, which decreases the production of thyroid hormones. The signs and symptoms of congenital hypothyroidism range from mild to severe depending on the level of hormone production. In many cases, the thyroid gland is enlarged (goiter) in an attempt to compensate for reduced hormone production."http://ghr.nlm.nih.gov/gene/SLC5A5Thanks,Joan