New Genetic Syndrome Discovered – MEDNIK

5 12 2008

There is a very interesting article at Neuroscience News covering the discovery of a new genetic syndrome known as MEDNIK. MEDNIK stands for mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia.

According to the artcle, MEDNIK is caused by faulty development of neural networks within the spinal cord, inner ear and brain. It seems these neural networks are impaired due to a mutation in the AP1S1 gene.

In zebrafish, a loss of the AP1S1 gene caused similar developmental problems as listed above. When the geneticists induced expression of normal human AP1S1 genes in zebrafish that had the zebrafish AP1S1 genes removed, the zebrafish were able to rectifiy the developmental problems. When the mutated form of human Ap1S1 was used in the zebrafish, the developmental problems remained.

Clearly, this animal model will be of great use to study this horrible genetic syndrome and hopefully lead to gene therapy for those suffering from MEDNIK.

You can read the article here: Discovery of a debilitating genetic syndrome – MEDNIK