7. Role of PTEN Gene Mutations in Proteus Syndrome
The seventh fact highlights the role of PTEN gene mutations in a rare condition known as Proteus Syndrome. Proteus Syndrome is characterized by overgrowth of the bones, skin, and other tissues. The symptoms are usually progressive and can affect people in various ways.
Although not all cases of Proteus Syndrome are caused by PTEN gene mutations, there is a significant proportion of affected individuals that carry a mutation in this gene. PTEN’s role as a tumor suppressor means it prevents cells from growing and dividing too rapidly. A mutation can lead to uncontrolled cell growth and division, resulting in the symptoms observed in Proteus Syndrome.
This overgrowth can cause a range of health problems, depending on which parts of the body are affected. For instance, if the overgrowth occurs in the bones, it can lead to skeletal abnormalities; if it happens in the skin, it can lead to unusual skin growths.
Researchers are still studying the precise mechanisms through which PTEN gene mutations contribute to Proteus Syndrome. Further insights into this relationship could pave the way for improved diagnosis and treatment options for those affected by this condition. (7)
