ERAL1 is a protein which works in the mitochondria, the part of the cell which generates energy. If there is a mistake in the ERAL1 protein this can interfere with the cells’ ability to generate energy. A gene is a section of DNA which contains the instructions to make a protein and changes in some of the letters in a gene can cause changes to the protein.
Perrault syndrome is caused by small changes to the gene which are the equivalent to changing a word in a sentence. Although the change is small changing one word in a sentence can change the meaning. These changes can make a protein work less efficiently.
Diagnostic testing – To test for mistakes in the protein ERAL1 a doctor will look for changes in the ERAL1 gene. As conditions caused by changes in ERAL1 can be very similar to conditions caused by other genes your doctor will probably test a number of genes for changes at the same time. As someone affected by these conditions inherits an altered gene from each parent it can be useful to test the parents too.