The multiple endocrine neoplasia syndromes

Article Abstract:

Multiple endocrine neoplasia (MEN) type 1 and type 2 shows an autosomal dominant pattern of inheritance and many patients with MEN1 have mutations in the menin gene and mutations in the REarranged during Transfection (RET) gene cause MEN2A, MEN2B, and familiar medullary thyroid carcinoma (MTC). New insights into molecular pathway of RET signal transduction are making way for targeted therapies in patients with locally advanced or metastatic hereditary MTC.

Genetic aspects, Tyrosine, Adenomatosis, Familial endocrine, Multiple endocrine neoplasia, Clinical report

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Therapeutic use of calcimimetics

Article Abstract:

A study was conducted on the calcium-sensing receptor CaSR agonists (calcimetics) and antagonists (calcilytics), which have been identified and current and potential therapies for a variety of disorders are provided. Results show that calcimimetics can become a major therapy for hyperparathyroidism and calcilytics may prove useful in the treatment of osteoporosis.

Drug therapy, Osteoporosis, Hyperparathyroidism

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Inherited disease involving G proteins and G protein-coupled receptors

Article Abstract:

The common structural feature of G protein -coupled receptors (GPCRs) is presented. Loss and gain of function mutations in genes, encoded in GPCRs are responsible for some inherited diseases related to retinal, endocrine, metabolic and developmental disorders.

Care and treatment, Genetic disorders

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