The RNASET2 gene provides instructions for making a protein called ribonuclease T2 (RNAse T2), which is abundant in the brain. Ribonucleases help break down RNA, a chemical cousin of DNA. Studies suggest that ribonuclease T2 may also be involved in other functions within cells, such as controlling the development of blood vessels (angiogenesis) and helping to prevent the growth of cancerous tumors. These potential roles of the protein are not well understood.
At least 10 RNASET2 gene mutations have been identified in people with RNAse T2-deficient leukoencephalopathy. This disorder involves brain abnormalities leading to neurological problems that become apparent during infancy, affecting intellectual ability and the development of motor skills such as sitting and crawling.
The RNASET2 gene mutations that cause RNAse T2-deficient leukoencephalopathy result in loss of ribonuclease T2 protein function. It is unknown how loss of this protein results in the brain abnormalities and neurological problems characteristic of RNAse T2-deficient leukoencephalopathy. Researchers have noted that the signs and symptoms of RNAse T2-deficient leukoencephalopathy are similar to those resulting from infection by a particular virus, called cytomegalovirus (CMV), when it is transmitted to a fetus during pregnancy (congenital CMV). They are seeking to understand how the viral infection, or the body's response to it, and the loss of ribonuclease T2 function could have similar effects on the developing brain. It is thought that both may be related to changes in angiogenesis or an immune system response to RNA that has not been properly broken down.
- ribonuclease 6
- ribonuclease T2 precursor