The Future of Familial Alzheimer's

Back in October, I had the chance to hear Professor Robert Morrison from the Neuroscience department at Loyola University Chicago speak about Alzheimer’s Disease; its symptoms, causes, and chances for treatment. This presentation sparked my interest in the different types of onset involved in Alzheimer’s, and how these seemingly different conditions were being treated and researched. I became most curious about Early Onset Alzheimer’s Disease (EOAD) because of its genetic linkage and new potential in treatment methods for treatment of Alzheimer’s.

According to Alzforum, an online information and news resource for Alzheimer’s Disease research and diagnostics, EOAD is linked to mutations in the following three genes: amyloid precursor protein (APP), presenilin-1 (PS1), and presenilin-2 (PS2).

While exploring this topic further, a tragic story about a Colombian family’s experience with Early Onset Familial Alzheimer’s Disease (EOAD) caught my interest most [see attached New York Time’s article A Vanishing Mind: Alzheimer’s Stalks a Colombian Family]. This family lives in a secluded region of Colombia called Antioquίa and is the largest family in the world to have Early Onset Familial Alzheimer’s Disease; over 5,000 people are included in this disease-stricken lineage. The disease carries drastic consequences for those affected in this family: symptom onset between ages 30 to 50, lack of access to treatment and medication, and lack of medically-educated caretakers.

Dr. Francisco Lopera, a local neurologist who has been studying this family for over 28 years, states, “this is the only place in the world where we can find a family like this, where it’s possible to do prevention therapy more easily”. Through years of research, Lopera was finally able to discover which mutation caused this family’s EOAD: a mutant chromosome 14 presenilin 1 gene. This mutation is called the Paisa mutation, and it has become the basis of a research project that could potentially hold the key to Alzheimer’s treatment and prevention not only in Colombia, but worldwide. This family offers a great opportunity for scientific research since most of the extended family with the gene mutation live in the same location and lead similar lifestyles, allowing research to provide data free of inconsistencies that would likely skew data from more randomized populations. Experimental treatment for this family is likely to involve medications which attack the beta-amyloid protein, which is known to create plaques between neurons. Other more in-detail experimental methods can be found on the New York Time’s article included in the references section. This article also includes a documentary video of this family, which I believe to be a very powerful tool in making the general population relate to these humans on a more personal level.

Sources:

http://www.alzforum.org/early-onset-familial-ad/overview/what-early-onset-familial-alzheimer-disease-efad

http://www.nytimes.com/2010/06/02/health/02alzheimers.html?pagewanted=all&_r=0

Image:

https://i.vimeocdn.com/video/539243581_640.jpg