PAPL
The p53 Gene: A Guardian of the Genome
Description
The p53 gene, also known as the "tumor protein 53," serves as a critical gatekeeper of the human genome. It acts as a tumor suppressor, preventing the proliferation of cells with DNA damage that could potentially lead to cancer.
p53 is activated in response to cellular stress, such as DNA damage, oxidative stress, and oncogene activation. Upon activation, it triggers a cascade of cellular events, including DNA repair, cell cycle arrest, and apoptosis (programmed cell death). By silencing damaged cells or prompting their repair, p53 prevents the accumulation of mutations that contribute to cancer development.
Associated Diseases
Mutations in the p53 gene are implicated in various types of cancer, including:
- Lung cancer
- Breast cancer
- Colon cancer
- Prostate cancer
- Leukemia
In addition, mutations in p53 can also lead to non-cancerous conditions, such as:
- Li-Fraumeni syndrome (a rare inherited disorder that increases the risk of multiple cancers)
- Nijmegen breakage syndrome (a rare inherited disorder characterized by immunodeficiency, growth retardation, and chromosome instability)
Did you Know ?
Approximately 50% of all human cancers harbor mutations in the p53 gene, highlighting its crucial role in cancer prevention.
