A recent discovery by researchers at McGill University and Lady Davis Research Institute for Medical Research at Montreal's Jewish General Hospital promises to help in the diagnosis and curing of Alzheimer’s disease. They found that in patients will AD, there was a hyperphosphorylation (extra phosphate added) to one of the amino acids on a tau protein in the CNS. The 6 isoforms of Tau proteins are involved in the stabilisation of microtubules by their reaction with tubulin. When they are hyperphosphorylated, it causes a protein cascade with interaction between tau proteins resulting in neurofibrillary tangles that cause the neuron transport system to fail. This causes incorrect signals to be sent, and eventually neuron death. These tangles often occur in older individuals, but not on nearly as large a scale as in a patient with AD. A protein called beta-amyloid that builds up in neurons is also associated with AD, and thought to help cause cell death by interrupting cell homeostasis, causing apoptosis. By investigating the cause of this hyperphosphorylation, and build up of beta-amyloids, researchers hope to eventually find a cure for AD, as they believe that this hyperphosphorylation may be genetically linked. APOE is a gene that is present in 50% of late-onset Alzheimer’s disease cases. Genetic interpretation of this gene could help to find a cure, and genetic modification of this gene in embryos could also help to cure it.
This discovery is very important, as Alzheimer’s disease is a very prominent disease in society’s elderly, and can have disastrous effects, such as initially short-term memory loss, then as the disease progresses, resulting in greater cognitive degeneration, confusion, irritability, mood swings, language breakdown and long-term memory loss. This draws on many of the concepts covered in the course, such as protein interactions, protein cascades, genetic modification and interpretation.
http://www.ncbi.nlm.nih.gov/pubmed/11801334
http://www.genengnews.com/genCasts.aspx
Andrew Buchan - s4202068
