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Mutation in a Gene is Responsible for Cowden syndrome

Cowden syndrome is rare and it is difficult to diagnose this disorder. As a result, an exact estimate of people suffering from this disorder is not clear. However, it is believed that 1 in 200,000 people get affected with this disorder. It causes growth of several non-cancerous but tumor-like chunks of malignant cells called hamartomas in different parts of the body. This leads to a higher risk of developing certain and severe types of cancers. Though the exact mechanism is not known, Scientists attribute the cause to genetic indifferences. Researchers at the Ohio State University Comprehensive Cancer Center have discovered that mutation in a particular gene could be responsible for Cowden syndrome. The results of the findings are published in the journal Proceedings of the National Academy of Sciences of the United States of America. This article tries to gain further insight on this topic.

Basics to Appreciate the Research: Cells are the building blocks of life. They are guided to carry out their functions through chemical instructions called genes. The genes are primarily molecules located at precise locations inside the cells. There are several reasons which cause missing or relocation of the molecules in the genes. The process is technically called mutation of genes. Absence of genes from their allocated locations lead to changes in the normal functions of the body.

Knowledge Gained from Research:

  • The researchers tried to understand the mutation in the gene PTEN, which causes Cowden syndrome when inherited.
  • When the gene is not inherited and undergoes mutation, it causes lung, prostate and pancreatic cancers.
  • The study found that the process of mutation plays a vital role in causing cancer to different organs of the body in Cowden syndrome patients.
  • Specific mutations of the gene PTEN are responsible for causing specific types of cancer.
  • PTEN is found to be the second most commonly mutated gene in human cancer. Study of mutation in this gene can also explain the severity and the rate at which tumours in multiple organs spread.
  • This gene is also responsible for causing developmental disabilities and autism.
  • The focus of the further research is now on understanding why the severity of cancers is different in patients though the cause happens to be the mutation of the same PTEN gene.

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