What is TSH receptor mutation?
What is TSH receptor mutation?
Mutations of the thyrotropin receptor (TSHr) can be loss of function or gain of function. Loss-of-function mutations can affect a variety of loci in the TSHr gene. Their most common manifestation is resistance to TSH; they may also be the cause of a subset of cases of congenital hypothyroidism.
What mutation causes hyperthyroidism?
TSHR gene mutations can cause disorders associated with hyperthyroidism. These mutations change one of the amino acids used to make the thyroid stimulating hormone receptor. As a result, the receptor is continuously activated and overstimulates the production of thyroid hormones.
What happens when TSH binds to TSH receptors?
TSH Receptor (Thyrotropin Receptor) TSHR is the primary molecule regulating both differentiated function and growth of thyroid follicular cells. On binding of TSH, TSHR transduces signals through Gs–cyclic AMP (cAMP) and Gq–phospholipase C cascades.
What kind of mutation is hypothyroidism?
When congenital hypothyroidism results from mutations in the PAX8 gene or from certain mutations in the TSHR or DUOX2 gene, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What causes congenital hypothyroidism in newborns?
What causes congenital hypothyroidism? Congenital hypothyroidism most often occurs when the thyroid gland does not develop properly, either because it is missing, is too small, or ends up in the wrong part of the neck. Sometimes the gland is formed properly but does not produce hormone in the right way.
Is hyperthyroidism an autoimmune disease?
What is Graves’ disease? Graves’ disease is an autoimmune disorder that causes hyperthyroidism, or overactive thyroid. With this disease, your immune system attacks the thyroid and causes it to make more thyroid hormone than your body needs.
Are thyroid disorders genetic?
Thyroid disease is often hereditary “More than 75% of the time, patients with thyroid disease tell me that someone on one side of their family has thyroid disease,” says Dr. Nasr. “The more family members that have thyroid disease, the greater the likelihood that there is a hereditary root.
Is underactive thyroid genetic?
Primary causes of hypothyroidism are much more common. The most common of these primary causes is an autoimmune condition called Hashimoto’s disease. Also called Hashimoto’s thyroiditis or chronic lymphocytic thyroiditis, this condition is hereditary (passed down through a family).
What is a TSH receptor mutation?
TSH Receptor Mutations and Thyroid Disease. Abstract. Mutations of the thyrotropin receptor (TSHr) can be loss of function or gain of function. Loss-of-function mutations can affect a variety of loci in the TSHr gene. Their most common manifestation is resistance to TSH; they may also be the cause of a subset of cases of congenital hypothyroidism.
What happens if the thyrotropin receptor is damaged?
Mutations of the thyrotropin receptor (TSHr) can be loss of function or gain of function. Loss-of-function mutations can affect a variety of loci in the TSHr gene. Their most common manifestation is resistance to TSH; they may also be the cause of a subset of cases of congenital hypothyroidism.
What is the role of TSH and TSHR in thyroid function?
A proper interplay between TSH and TSHR is pivotal for thyroid growth and regulated production and release of thyroid hormones (TH). Autoimmune (antibody binding) or non-autoimmune (occurrence of mutants) TSHR dysfunctions are the underlying cause of several pathologies, including rare cancer-development.
Is there a role for TSHR polymorphisms in Graves’ disease?
A role for TSHr polymorphisms in Graves’ disease has not been documented. Over the past few years, mutations in the thyrotropin receptor (TSHr) gene have been identified as a cause of acquired, hereditary or congenital thyroid diseases ( Tonacchera et al., 1996a ).
