Genes are instructions for the body. The DARS2gene contains the instructions for a protein that the cell "power plants" (mitochondria) need to build other proteins. In LBSL both copies of the gene have a change (mutation), so this protein does not work well. The white matter of the brain and spinal cord is most sensitive to this. The diagnosis is made with an MRI scan and a genetic (DNA) test.
DARS2