They discover a mutation that protects against Alzheimer’s

2012/07/18 Etxebeste Aduriz, Egoitz - Elhuyar Zientzia Iturria: Elhuyar aldizkaria

• Osasuna
• Medikuntza
• Biokimika
• Biologia

They discover that an abnormal mutation protects you from Alzheimer's disease and the cognitive deterioration associated with age. As they have recently published in Nature, mutation affects beta-amyloid production. It is precisely these proteins that are the main suspected of producing Alzheimer.

1.795 Researchers from the Icelandic center of CODE Genetics discovered mutation by analyzing the genomes and clinical histories. Only 0.5% of Icelanders have mutation, but those who have mutation are 5 times more likely not to suffer Alzheimer's at age 85 and 7.5 times more likely not to suffer another age-related cognitive decline. In addition, they live more and obtain better results in the cognitive tests performed in nursing homes.

The mutation modifies an amino acid of beta-amyloid precursor protein (APP), very close to where the BACE1 enzyme cuts this protein. Beta-amyloids come from the cuts made by this enzyme. Well, the researchers have found that mutation reduces the effectiveness of the enzyme and produces 40% less beta-amyloid.

This study confirms that beta-amylodies influence the disease and that the right strategy for treatment against Alzheimer's and cognitive impairment is to prevent beta-amyloid production. In fact, in recent years many sessions are being held, although a good result has not yet been achieved. Researchers believe that it is possible that these attempts fail because the treatment starts too late and that the key might be that beta-amyloid production did not occur earlier.