2025 Nobel Prize in Medicine./What is FOXP3 Gene?

Scientists from the U.S. (Mary Brunkow, Fred Ramsdell) and Japan (Shimon Sakaguchi) were jointly awarded the 2025 Nobel Prize in Medicine.

• Their prize-winning breakthrough was the discovery of regulatory T cells and the controlling FOXP3 gene, which prevent the immune system from attacking the body’s own healthy cells.
• The research has created new avenues for treating autoimmune diseases and cancer, with over 200 human clinical trials for related therapies now underway.
• regulatory T-cells (Tregs) have a crucial role after T-cells leave the thymus. They “instruct” T-cells not to attack the body’s health tissues.
• Recent studies have shown that regulatory T-cells contribute to preventing unwanted immune activation.
• In autoimmune diseases, the cells cannot be regulated, thus causing the immune attack.
• So, targeting regulatory T-cells and harnessing their immune-modulating properties is a goal for patients with autoimmune diseases and cancer.

Using knowledge of regulatory T-cells and what enhances their function and stability opens pathways for scientists to establish new treatments in the future. New studies have used the information about regulatory T-cells in attempts to control the immune response in patients with cancer.

What is FOXP3 gene ?

The FOXP3 gene provides instructions for making the FOXP3 protein, a transcription factor crucial for regulating the immune system and the development of regulatory T cells (Tregs). Mutations in the FOXP3 gene can cause IPEX syndrome, a rare autoimmune disorder where the body’s immune system attacks its own tissues. The FOXP3 protein binds to DNA and controls gene activity to suppress immune responses, balance the immune system, and prevent excessive self-attacks.
Function and Role:
Immune Regulation: FOXP3 is a key regulator of the immune system. It is found in specific immune cells called regulatory T cells (Tregs), which help maintain immune balance and prevent autoimmune diseases.
Transcription Factor: As a transcription factor, the FOXP3 protein binds to DNA and controls the activity of other genes involved in immune function.
Gene Regulation: It can both activate and repress genes, which is essential for suppressing immune responses and controlling the development of effector T cells that can cause inflammation.
Clinical Significance
IPEX Syndrome: Mutations in the FOXP3 gene are the cause of IPEX syndrome, a severe X-linked autoimmune disease that leads to multiple autoimmune disorders, affecting organs like the intestines and endocrine glands.
Cancer: FOXP3 also has a dual role in cancer, acting as a tumor suppressor in some cancers and influencing tumor metastasis in others by affecting processes like angiogenesis and invasion.
Genetic Aspects
Gene Location: In humans, the FOXP3 gene is located on the X chromosome.
Genetic Variation: Variations in the FOXP3 gene, such as single nucleotide polymorphisms (SNPs), can affect its expression and are linked to autoimmune diseases.