MUTYH

Introduction

Did you know that your genes play a crucial role in protecting you from cancer? One such gene is the MUTYH gene, a guardian within your DNA that helps prevent the development of colorectal cancer and other cancers. In this blog post, we‘ll delve into the fascinating world of the MUTYH gene, exploring its functions, the risks associated with mutations, and how you can take proactive steps to safeguard your health. We‘ll also discuss the prevalence and impact of MUTYH mutations in the Indian population.

What is the MUTYH Gene?

The MUTYH gene provides instructions for creating an enzyme called MYH glycosylase. This enzyme is a vital part of your body‘s DNA repair system. It helps correct specific errors that occur during DNA replication, ensuring the integrity of your genetic code. When the MUTYH gene is working correctly, it acts as a shield, protecting your cells from accumulating harmful mutations that could lead to cancer.

MUTYH-Associated Polyposis (MAP)

When there are mutations in both copies of the MUTYH gene, it can lead to a condition called MUTYH-associated polyposis (MAP). MAP is an inherited disorder characterized by the development of multiple polyps in the colon and rectum. While not all polyps are cancerous, they can increase the risk of developing colorectal cancer over time.

Symptoms and Risks

Individuals with MAP may experience:

• Colorectal polyps: These are abnormal growths in the lining of the colon and rectum.
• Increased risk of colorectal cancer: MAP significantly elevates the lifetime risk of developing this type of cancer.
• Other potential cancers: While less common, MAP may also increase the risk of stomach, small intestine, ovary, endometrium, bladder, liver, thyroid, and skin cancers.

MUTYH Mutations in India

While global data suggests that 1-2% of individuals are carriers of MUTYH mutations, studies in India have shown varying prevalence rates. A study published in the Journal of Human Genetics in 2016 found that MUTYH mutations were present in 26.1% of Italian patients with suspected MAP. While comprehensive data for India is still emerging, it is crucial for individuals with a family history of colorectal cancer or polyps to consider genetic testing.

Did you know

MUTYH-associated polyposis is rare, occurring in about 1 in 10,000 individuals.