PTEN (gene)

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PTEN (phosphatase and tensin homolog) is a gene that encodes an enzyme known as phosphatase and tensin homolog. This enzyme is a protein that acts as a tumor suppressor by regulating the cell cycle, preventing cells from growing and dividing too rapidly or in an uncontrolled way. The PTEN gene is located on chromosome 10 in humans.

Function

The PTEN protein is a phosphatase that removes phosphate groups from phosphatidylinositol (3,4,5)-trisphosphate, a lipid second messenger involved in the PI3K/AKT signaling pathway. By dephosphorylating this molecule, PTEN negatively regulates the pathway, which is crucial for controlling cell growth, proliferation, and survival. This regulation helps to prevent the formation of tumors.

Clinical Significance

Mutations in the PTEN gene are associated with several types of cancer, including breast cancer, prostate cancer, and endometrial cancer. These mutations can lead to a loss of PTEN function, resulting in uncontrolled cell division and tumor growth. PTEN mutations are also linked to several inherited conditions, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, which are characterized by an increased risk of developing benign and malignant tumors.

PTEN and Cancer

PTEN is one of the most frequently mutated genes in human cancers. Loss of PTEN function can lead to the activation of the PI3K/AKT pathway, promoting cell survival and proliferation. This makes PTEN a critical target for cancer research and therapy. Researchers are exploring ways to restore PTEN function or inhibit the PI3K/AKT pathway in cancers with PTEN mutations.

Research and Therapeutic Approaches

Current research is focused on understanding the detailed mechanisms of PTEN regulation and its role in various cellular processes. Therapeutic approaches include developing drugs that can mimic PTEN activity or inhibit the downstream effects of its loss. Gene therapy to restore PTEN function is also being investigated.

See Also

• Tumor suppressor gene
• PI3K/AKT signaling pathway
• Cowden syndrome
• Cancer