Alzheimer’s disease is a neurodegenerative condition related to the loss of cells and the development of abnormalities within areas of the brain, resulting in multiple types of amnesia. Although the disease affects many elderly people in the community, relatively little is known about this condition. However, recent research by Fabrizio Tagliavini has suggested that a single copy of a mutation in the gene Amyloid-β precursor protein (APP) could in fact protect people against Alzheimer’s disease, and that recreating a synthetic protein mimicking this mutation could provide a potential treatment for Alzheimer’s sufferers.
The gene APP creates a protein called A-beta, which results in communication blockages between neurons in the brain. These blockages are thought to be critical factors in the degenerative symptoms of Alzheimer’s: memory loss and speech difficulties.
Patients with two copies of a mutation in APP were found to have neurological and cognitive disorders, such as Alzheimer’s – whereas those with only one copy of the mutation appeared to show signs of protection against neurological abnormalities. Tagliavini’s research team believe that two copies of the mutation result in difficulties in neurotransmission, while inheriting a single copy of the mutant protein allows this process of communication between brain cells to occur normally without developing blockages.
Previous genetic research has shown that mutations implicated in the disease are dominant – that is, only one copy of the mutation inherited from one parent can cause a person to suffer from Alzheimer’s disease. The researchers hope to develop a drug that is able to artificially recreate the single protein mutation, which may protect sufferers’ from neurotransmission blockages and thus preventing symptoms such as memory loss.
Links:
http://www.sciencemag.org
http://www.newscientist.com/article/dn16750-paradoxical-gene-causes-and-protects-against-alzheimers.html
www.ALZinfo.org
