Fabrizio Tagliavini and fellow researchers at the National Neurological Institute in Italy have recently discovered a gene mutation which may both cause and prevent the onset of Alzheimer'sThe gene ,named APP, creates β-amyloid, a protein found to affect the brains neuron receptors. β-amyloid proteins bind together within the brain and prevent the communication of neurons. Many scientists believe that this "clumping" affect causes Alzheimer symptoms to occur including memory loss and speech difficulty.
Tagliavini's investigation into the gene focused around a family whose members all had the mutated gene in either homozygous or heterozygous form. They found that those with the homozygous form contracted Alzheimer's early in life or had cognitive problems. On the other hand, members with the heterozygous form showed no signs of Alzheimer's.
Further experiments were conducted on the protein created by the mutated gene. Tagliavini's team mixed the mutated and normal protein together and found that there was minimal "clumping". Surprisingly even less than the mutant protein and normal protein alone. Tagliavini suggested that this minimal clumping could aid in the prevention of Alzheimer's.
For those with homozygous APP, Tagliavini found that another mutant protein which is extremely small (only 6 units in length) was able to prevent the β-amyloid from blocking the neurons however he was unable to synthetically create the protein inside of Alzheimer patients.
Although a very small percentage of Alzheimer patients have this gene mutation, it is hoped that scientists may one day be able to replicate this mutation, thus preventing the onset of Alzheimer's. Although Tagliavini admits "we are very far away from this point", it is still an exciting break through for neurology community.
References:
1. Giuseppe Di Fede et al, March 2009, A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis, DOI 10.1126/science.1168979. Retrieved on the 22 March 2009 from
http://www.sciencemag.org/cgi/content/abstract/sci;323/5920/1473?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=Alzheimer+Fabrizio+Tagliavini&searchid=1&FIRSTINDEX=0&resourcetype=HWCIT
2. Ewen Callaway, March 2009, Paradoxical gene causes and protects against Alzheimer's. Retrieved on the 22 March 2009 from
http://www.newscientist.com/article/dn16750-paradoxical-gene-causes-and-protects-against-alzheimers.html
3. Alzheimers [Image], n.d., Retrieved on the 22 March 2009 from
http://topnews.in/healthcare/sites/default/files/Alzheimers56.jpg
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