Investigators have developed assays for the detection of circulating mRNA species coding for thyroid peroxidase (TPO), the sodium iodine symporter (NIS), pendrin
(PDS), the thyrotropin receptor (TSHR) and Tg.
When the SLC26A4 gene is mutated, it leads to a loss of pendrin expression, which causes swelling of the inner ear and loss of hearing and balance," Philine Wangemann, university distinguished professor of anatomy and physiology in the College of Veterinary Medicine, said.
In other words, if we could restore the proper expression of pendrin in the endolymphatic sac and thereby prevent swelling of the sac, this may prevent swelling of other parts of the inner ear and rescue hearing and balance," she said.
protein, which mediates iodide transport across the thyroidal apical membrane into the follicular lumen, where it is used in the iodination of thyroglobulin, is one such possible target (MA DEP 2006; Scinicariello et al.
The main fate of absorbed iodide is uptake and concentration by the thyroid gland via an active transport mechanism known as the iodine transporter or as pendrin
As reported in the December 1997 Nature Genetics, the investigators finally struck gold with a gene that appears to encode a protein, which they call pendrin, that ferries sulfate molecules across cellular membranes.
As expected, the gene encoding pendrin turned out to be active in the adult thyroid gland.
Blurring the definition of Pendred's syndrome, however, the investigators have also found that certain mutations in the pendrin gene can cause deafness without thyroid problems.
This finding, he adds, may mean that mutations in the pendrin gene account for many more cases of deafness than researchers had previously suspected.
Key words: genetic susceptibility, hypothyroidism, mutations, NIS, Pendred syndrome, pendrin, perchlorate, thyroid gland, TPO.
From the follicular cell, the iodide moves across the apical membrane, transported by pendrin protein (Yoshida et al.
The predicted gene product pendrin is a highly hydrophobic 780 amino acid protein that transports chloride and iodide and mediates the exchange of chloride and formate.