A RET mutation refers to a change in the RET gene, which can lead to various health conditions.
Understanding RET Mutations
The RET gene provides instructions for making a protein that functions as a receptor tyrosine kinase. This protein is crucial for cell signaling, growth, and differentiation, especially in nerve cells. When the RET gene is mutated, it can disrupt these processes.
Impact on Health
-
Hirschsprung Disease: According to the provided reference, mutations in the RET gene are the most common genetic cause of Hirschsprung disease. This condition results in severe constipation or blockage of the intestine. More than 200 RET gene mutations are known to cause this.
- Example: A specific mutation might prevent nerve cells in the colon from developing properly, leading to the characteristic symptoms of Hirschsprung disease.
Types of RET Mutations
While the reference focuses on Hirschsprung disease, it's important to note that RET mutations can manifest in different ways:
| Mutation Type | Associated Condition(s) |
|---|---|
| Missense | Hirschsprung Disease, etc. |
| Deletion | Hirschsprung Disease, etc. |
| Other | Hirschsprung Disease, etc. |
Detection and Management
Genetic testing can identify RET mutations. Management strategies vary depending on the specific condition caused by the mutation. For Hirschsprung disease, treatment often involves surgery to remove the affected portion of the intestine.
