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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

All of our genes code for specific proteins, which have specific roles in our bodies. The PLP1 gene provides the code to build proteolipid protein 1, and a similar protein called DM20. These are the main proteins which are found in myelin. If the PLP1 gene contains a mutation, these proteins will not be made. If these proteins are not made then the myelin sheath cannot be formed correctly. This leads to the symptoms of Pelizaeus-Merzbacher disease.