Familial Alzheimer's disease is caused when the gene for Alzheimer's is inherited from an ancestor in the family. In the study explained in the Science Daily article, scientists from the University of California, specifically the San Diego School of Medicine, utilized the flexibility and versatility of stem cells to be able to understand the function of a specific protein that is mutated in familial Alzheimer's disease. The use of stem cells allowed researchers to make their own mutations in the cells and note how the specific mutation correlates with the symptoms and illness of an actual human being suffering from Alzheimer's. This is ultimately how they were able to detect the effect of the specific mutation within a specific protein.
This specific protein of study is called presenilin 1, or also known as PS1. The function of this protein is to assist in the degeneration of other proteins. Specifically, PS1 is very important in causing gamma-secretase to function. This enzyme is important when splitting specific transmembrane proteins. One of the proteins that is dismembered by gamma-secretase is called amyloid precursor protein, or APP. When APP comes in contact with the enzyme gamma-secretase, the result is a chopped up APP molecule. These pieces of the APP molecule are now referred to as amyloid beta. It is believed by some that an accumulation of these amyloid beta pieces can cause neurons in the brain to be killed. This killing of neurons in the brain is thought to be linked to Alzheimer's disease.
Looking at the situation more broadly: when PS1 breaks down proteins, inevitably, some of the locations in which the protein breaks apart the other protein can be more damaging than others. But in a human without a mutation in this gene, these poor breaks of the proteins do not do much harm. However, when this PS1 protein is mutated, these ineffective break locations can be more common, and thus more detrimental to the neurological system.
I love how stem cells are being utilized more in the research of the biological world. Stem cells are such wonderful tools to be able to study how certain effects can result in some of the symptoms or signs of illnesses that people suffer from regularly. The debate over whether stem cell research is ethical or not is a whole other issue. But to hopefully assist those 5.2 million Americans suffering from Alzheimer's disease, this finding opens some doors to potentially be able to target this mutated protein, and fix it through means of prescription or some other form of assistance.
http://www.sciencedaily.com/releases/2013/11/131114193205.htm
http://www.alzheimer-europe.org/Dementia/Other-forms-of-dementia/Neuro-Degenerative-Diseases/Familial-Alzheimer-s-disease#fragment-1
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