Thursday, September 26, 2013

Be aware of PAX8

What is the normal function of the PAX8 gene?

The PAX8 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA. By attaching to critical DNA regions, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX8 protein is thought to activate genes involved in the formation of the kidney and the thyroid gland. The thyroid gland is a butterfly-shaped tissue in the lower neck. It releases hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Following birth, the PAX8 protein regulates several genes involved in the production of thyroid hormones.(fromGenetics home reference)

It is now used a biomarker:

"PAX8 is expressed in Anaplastic Thyroid Carcinoma diagnosed by fine needle aspiration. A study of three cases with histological correlates "
European Journal of Endocrinology, 07/01/2013

Bellevicine C et al. – The aim of this study was to evaluate whether PAX8 could identify anaplastic thyroid carcinoma (ATC) also on cytology. PAX8 immunocytochemistry can help the cytopathologist to diagnose ATC.


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