CLPP is a protein which works in the mitochondria, the part of the cell which generates energy. If there is a mistake in the CLPP 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 – This condition 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.
Other CLPP associated disorders – The more severe conditions are caused by larger changes in the CLPP gene for example by the deletion of a section of the gene. This is the equivalent of deleting a section of a sentence so it no longer makes sense. These changes often mean the protein does not work. Some of these patients have a small change inherited from one parent with a deletion inherited from the second parent.
Diagnostic testing – To test for mistakes in the protein CLPP a doctor will look for changes in the CLPP gene. As conditions caused by changes in CLPP 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.