RNASET2-deficient leukoencephalopathy is caused by mutations in the RNASET2 gene. This gene carries a construction plan for a protein named ribonuclease T2 (RNAseT2). RNASET2 is located in lysosomes – specialised compartments in the cell responsible for the degradation and recycling of cellular waste materials. RNAses are enzymes that degrade so called RNAs, large molecules with a broad range of biochemical functions. A loss of RNAseT2 function due to mutations in both copies of the gene (autosomal recessive inheritance) may lead to an accumulation of different RNAs in the lysosomes and, therefore, disturbs the cellular processes. Though, the distinct mechanisms by which the characteristic symptoms occur are still not identified.
RNASET2