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New genetic link to early onset Alzheimer’s

By Tim Sandle     Jul 3, 2016 in Science
Australian researchers have found a connection between early onset Alzheimer’s disease and a type of genetic mutation. This could signal a new direction for research into the disease.
Most research into the neurodegenerative disease Alzheimer’s is focused on the build-up of a sticky protein plaque called amyloid beta. Amyloids are aggregates of proteins that become folded into the wrong shape, allowing many copies of that protein to stick together. The prevailing theory is that the protein leads to a loss of brain tissue and the onset of Alzheimer's disease manifestations, such as cognitive decline.
However, University of Adelaide scientists are looking into this from a different perspective — gene mutation. Specifically the scientists are considering whether a particular gene called PSEN1 can trigger early onset Alzheimer's disease. Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. The gene appears to play a role in generation of amyloid beta.
In a research note, the lead investigator Professor Michael Lardelli stated: “Most of the mutations that cause Alzheimer's disease before retirement age are found in the PSEN1 gene”, thus indicating the role of the gene in early inset Alzheimer’s disease.
He added that: “a huge research effort has focused on these mutations in the hope that advanced genetics analysis techniques might shed light on the still mysterious origins of both early and late onset Alzheimer's disease.”
With the study, Lardelli and his team have found a correlation between the types of mutations affecting this gene and whether or not mutations cause Alzheimer's disease. Here the particular form of the mutation appears key and it may not simply be the gene’s role in amyloid beta that leads to Alzheimer’s.
Professor Lardelli explains further: “There are two pathways that PSEN1 protein can take when it functions in cells. One pathway leads to production of amyloid beta while the second, less-studied pathway controls many other important activities including how cells recycle their components and respond to restricted oxygen availability.”
It is with the second pathway that the data suggests is a likely trigger for Alzheimer’s. This relatively under-explored area looks like becoming a new research focus. This finding has attracted considerable interest from within the scientific community on Twitter.
The research to date is published in the Journal of Alzheimer's Disease. The research is titled “Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer’s Disease.”
In related news, a new study suggests that pomegranate metabolites may protect the body against Alzheimer’s disease. It is important to note this research is at a very early stage and considerably more investigation is needed.
More about Alzheimer's disease, Genes, Genetics, Neurodegenrative disease
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