Proteolipid protein gene - Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

The dosage of the myelin gene and mutant forms of the protein can affect th e CNS and PNS. Pelizaeus-Merzbacher disease (PMD) is a myelin disorder of t he CNS that arises from both mutational mechanisms. Investigating the molec ular basis of PMD in patients and animal models is furthering our understan ding of the disease, dosage sensitivity and proteolipid protein function du ring myelinogenesis.