MMR deficiency, also known as Mismatch Repair deficiency, refers to a cellular condition where the cell's ability to correct errors made during DNA replication is impaired due to mutations in specific genes.
Understanding Mismatch Repair (MMR)
The process of DNA replication isn't perfect; mistakes happen. Fortunately, our cells have a built-in system to fix these errors called mismatch repair (MMR). Think of MMR like a spell checker for your DNA. When this system isn’t working properly due to mutations, we call it MMR deficiency.
How MMR Deficiency Occurs
- MMR deficiency arises when there are mutations (changes) in certain genes that are crucial for the mismatch repair mechanism.
- These gene mutations prevent the cell from effectively correcting DNA replication errors.
Consequences of MMR Deficiency
When the MMR system fails, several issues arise:
- Accumulation of DNA Mutations: MMR deficient cells accumulate more DNA errors than normal cells.
- Increased Cancer Risk: Due to the accumulation of these mutations, cells are more likely to become cancerous.
Summary of MMR Deficiency
| Feature | Description |
|---|---|
| Definition | Impaired ability of cells to correct errors made during DNA replication. |
| Cause | Mutations in genes involved in the mismatch repair process. |
| Consequence | Accumulation of DNA mutations, which can lead to an increased risk of cancer. |
In essence, MMR deficiency is a breakdown in the cell's error-correcting machinery, which ultimately leads to a higher chance of cancer development.
