Share This Page

Support & Insight for the Autumn of Life

Neuro-archaeologist Finds an Original Alzheimer’s Gene Mutation

Scientist doing Neuro-archaeology
VIDEO+ARTICLE: Kenneth S. Kosik traced an Alzheimer's gene mutation to a 16th century founder. See him solve this puzzle of the past and show why this can help the future. (Video+Article)

Discovering the age and origin of an Alzheimer’s gene mutation is a breakthrough in the search for a cure. The gene has been traced to a single founder dating from the 16th century. Called E280A, the mutation is responsible for early-onset Alzheimer’s in a Colombian family with an unusually high incidence of the disease.

Kenneth S. Kosik, Harriman Professor in Neuroscience at UC Santa Barbara and co-director of the campus’s Neuroscience Research Institute (NRI), conducted the study. The findings appear in the journal Alzheimer’s & Dementia.

“Some mutations just increase your risk, but this mutation is not a risk,” Kosik said. “This mutation is highly penetrant, which means that if you carry the mutation, you will get early-onset Alzheimer’s disease.”

Continued below video….

Kosik’s team sequenced the genomes of more than 100 family members and applied identity-by-descent analysis to identify regions of common ancestry. DNA is inherited from both the parents and recombined in chunks. From these pieces, scientists can identify which parent — and sometimes which grandparent or great-grandparent — is the source of the DNA. As time goes by, sections of DNA recombine into smaller and smaller segments, each representing a history of its ancestry.

A Useful Protective Gene?

Sequencing the genomes came about because the researchers knew that while most family members with the mutation develop early-onset Alzheimer’s at age 45, there were a small number of outliers. “A few people got it a decade later, a few got it a decade earlier and we wondered if there was a gene that was protecting those who got the disease later,” Kosik explained. “That protective gene — even though this mutation exists only in this Colombian family — might be useful for all of us. That research is still ongoing.”

Out of the genome sequencing came the idea of determining where the gene mutation originated. In addition to DNA analysis, the researchers conducted interviews with the older healthy individuals of each affected family and spoke to genealogists and historians in Colombia’s Antioquian region. Kosik’s co-author Francisco Lopera examined local historical and genealogical books, last wills and ecclesiastical records dating as far back as 1540.

A Single Founder

When the scientists examined the DNA patterns around the gene mutation site, they found markers from the Iberian peninsula. They estimated the age and geographic origin of E280A to be consistent with a single founder dating from the time of the Spanish Conquistadors who began colonizing Colombia during the early 16th century.

“This doesn’t have big medical implications, but it shows that genetics is a very powerful tool and can be used to reconstruct history,” Kosik said. “What we’ve done here might be called ‘neuroarchaeology.’ “


More Information

Source:

Journal Reference:

  • Matthew A. Lalli, Hannah C. Cox, Mary L. Arcila, Liliana Cadavid, Sonia Moreno, Gloria Garcia, Lucia Madrigal, Eric M. Reiman, Mauricio Arcos-Burgos, Gabriel Bedoya, Mary E. Brunkow, Gustavo Glusman, Jared C. Roach, Leroy Hood, Kenneth S. Kosik, Francisco Lopera. Origin of the PSEN1 E280A mutation causing early-onset Alzheimer’s disease. Alzheimer’s & Dementia; DOI:10.1016/j.jalz.2013.09.005
Email me when people comment
Notify of
guest

2 Comments
Inline Feedbacks
View all comments
Anonymous
Anonymous
December 12, 2013 1:33 am

My sister is 56 y/o & she was diagnoised when she was 52, now losing her neurological function

schizoozy
schizoozy
December 11, 2013 10:03 pm

so are you suggesting that the Colonization had an effect on the mutation, i.e. a Conquistador impregnating a Colombian native?

Edited by:
Picture of P. Berger

P. Berger

This site was inspired by my Mom’s autoimmune dementia.

It is a place where we separate out the wheat from the chafe, the important articles & videos from each week’s river of news. Google gets a new post on Alzheimer’s or dementia every 7 minutes. That can overwhelm anyone looking for help. This site filters out, focuses on and offers only the best information. it has helped hundreds of thousands of people since it debuted in 2007. Thanks to our many subscribers for your supportive feedback.

The site is dedicated to all those preserving the dignity of the community of people living with dementia.

Peter Berger, Editor

Share this page To

Related:

Diagnosis

Men Treat Stroke Faster than Women

Women with strokes caused by blood clots arrive at the hospital an average 27 minutes later than men, a delay that can damage brain cells and lead to vascular dementia. Read the startling statistics, and learn what to do about it.

Read More »
Share to Facebook
Twitter
LinkedIn

This site was inspired by my Mom’s autoimmune dementia.

It is a place where we separate out the wheat from the chafe, the important articles & videos from each week’s river of news. Google gets a new post on Alzheimer’s or dementia every 7 minutes. That can overwhelm anyone looking for help. This site filters out, focuses on and offers only the best information. it has helped hundreds of thousands of people since it debuted in 2007. Thanks to our many subscribers for your supportive feedback.

The site is dedicated to all those preserving the dignity of the community of people living with dementia.

Peter Berger, Editor

Visit Alzheimer's Weekly On

2
0
Would love your thoughts, please comment.x
()
x
News, Treatments, Care Tips, Diet

Alzheimer's & Dementia Weekly Newsletter: Free

Free. Care & Treatment. Research & Prevention

This site was inspired by my Mom’s autoimmune dementia.

It is a place where we separate out the wheat from the chafe, the important articles & videos from each week’s river of news. Google gets a new post on Alzheimer’s or dementia every 7 minutes. That can overwhelm anyone looking for help. This site filters out, focuses on and offers only the best information. It has helped hundreds of thousands of people since it debuted in 2007. Thanks to our many subscribers for your supportive feedback.

The site is dedicated to all those preserving the dignity of the community of people living with dementia.

Peter Berger, Editor

News to Get at the Truth

Subscribe To Our Weekly Newsletter