Endocrine Abstracts

Proteomics provides an avenue to understand the interaction between the functional pathways within a cell and its environmental milieu, independent of any changes at the RNA level. There are only a few studies in thyroid diseases using proteomics; variability in specimen content in fibrous versus follicular tissue plus the presence of other types of cells (blood, lymphatic) makes difficult to apply global proteomic to surgery pieces; commercial cell-lines of thyroid cancer wer...

Pendred syndrome is an autosomal recessive disorder with congenital-sensorineural deafness and goiter due to mutations in SLC26A4, that encodes a transmembrane protein, Pendrin. In thyrocytes, Pendrin is proposed to act at the apical pole to transport intracellular iodide into the follicular lumen.A Galician Pendred compound heterozygous patient was studied; a c.297delT in exon 3 and a new splicing-mutation c.416-1G<A were found, introducing p...