ALKBH8 is a gene that produces an enzyme responsible for modifying transfer ribonucleic acid (tRNA), which is a type of RNA molecule that helps translate a messenger RNA (mRNA) sequence into a protein. Specifically, it modifies the tRNA in such a way that helps in translation of proteins responsible for detoxifying reactive oxygen species (ROS), which are molecules that may be produced as a by-product of cell activity and can damage the DNA of cells. Mutations in ALKBH8 may disrupt the formation of these important detoxifying proteins. The brain is a very active organ and appears to be sensitive to the defects in tRNA modification and the reduced detoxification of ROS that result from ALKBH8 mutations, which may explain the signs and symptoms described in the Clinical Characteristics Section.
ALKBH8