Researchers have found the missing link in Lissencephaly cases in mice. Lissencephaly, also known as "smooth brain" disease, results in a shorter life span for infants and severe mental retardation. Children with the disease can also present with malformations of the brain and seizures.
The study involved mice who were given calpain inhibitor injections. Calpain is a protein that has been shown to degrade the LIS1 protein during fetal development. LIS1 is one of the two proteins responsible for aiding immature nerve cells in their migration from the deep brain tissue to the surface where the cerebral cortex is forming. With less LIS1, the brain is unable to form properly and Lissencephaly occurs.
The mice models were given regular injections of the calpain inhibitor, which returned the LIS1 levels to near normal. While the brains of these affected mice were not 100% normal upon birth, there was no sign of mental retardation and the brain resembled a more normal shape and size.
Doctors believe the results of these tests could mean new in utero therapy for children diagnosed with Lissencephaly via ultrasound. Up until now, parents were forced to prepare for a child that may face severe brain issues and possible early death. With an effective protein treatment, researchers believe the condition could be reversed and the child could heal in the womb.
In addition to Lissencephaly, doctors believe this breakthrough could lead to further advancement in the treatment of all human conditions that are related to protein deficiencies. Once the proteases responsible for breaking down the protein and causing the disease are found, doctors could theoretically cure the disease if found early enough in gestation.
Researchers have stated that moving forward with a human testing of the protein treatment could be difficult due to safety issues. Despite this difficulty, therapies could be developed thanks to the research findings to treat of long list of developmental disorders.
Source: Nature Medicine - September 2009