SLC5A5 Gene and iodide uptake

[Guest guest]

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 gene

Several 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/SLC5A5

Thanks,

Joan