Mutations in the WRN gene are responsible for Werner syndrome. The WRN gene encodes the Werner protein, which plays crucial roles in DNA maintenance, repair, and replication. When mutations occur in the WRN gene, they often result in the production of a truncated and dysfunctional Werner protein.
The normal function of the Werner protein involves interacting with DNA, particularly in the nucleus of the cell. However, the shortened protein produced due to mutations is typically unable to reach the cell nucleus. Additionally, it undergoes rapid degradation within the cell.
The exact mechanisms by which WRN mutations contribute to the signs and symptoms of Werner syndrome are not fully understood. However, researchers propose several potential explanations. Cells containing the altered Werner protein may exhibit slower division rates or premature cessation of division, leading to growth-related issues.
Moreover, the dysfunctional protein may fail to effectively repair DNA damage, allowing such damage to accumulate within cells. This accumulation of DNA damage could disrupt normal cellular functions and contribute to the development of health problems characteristic of Werner syndrome.