Navigation Links
UCSB researcher finds origin of inherited gene mutation causing early-onset Alzheimer's
Date:12/4/2013

(Santa Barbara, Calif.) The age and origin of the E280A gene mutation responsible for early-onset Alzheimer's in a Colombian family with an unusually high incidence of the disease has been traced to a single founder dating from the 16th century.

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."

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.

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.

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.' "


'/>"/>

Contact: Julie Cohen
julie.cohen@ia.ucsb.edu
805-893-7220
University of California - Santa Barbara
Source:Eurekalert  

Related medicine news :

1. NIH awards $20 million over 5 years to train next generation of global health researchers
2. Researchers develop a new cell and animal model of inflammatory breast cancer
3. Researchers uncover a viable way for colorectal cancer patients to overcome drug resistance
4. Researchers Find Gene Mutations That May Be a Key to Autism
5. Researchers find evidence of banned antibiotics in poultry products
6. NJ stroke researchers report advances in spatial neglect research at AAN Conference
7. Autism by the numbers: Yale researchers examine impact of new diagnostic criteria
8. Stress contributes to cognitive declines in women with breast cancer, researcher says
9. Researchers Map Brain Regions Linked to Intelligence
10. Researchers ID Genes That May Determine Mental Illness
11. Researchers Develop Blood Test for Depression
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UCSB researcher finds origin of inherited gene mutation causing early-onset Alzheimer's
(Date:9/19/2017)... ... September 19, 2017 , ... Ron Norman, CEO of Team Decades, ... of making a distinct rather than generic impression in the job market if one ... a stack of resumes knows that the first impression they give off is not ...
(Date:9/19/2017)... (PRWEB) , ... September 19, 2017 , ... When it ... Parents and guardians deserve clear instructions on how to keep babies and toddlers safe, ... which is Baby Safety Month. , Great Time to Check Labels, Brands that sell ...
(Date:9/19/2017)... , ... September 19, 2017 , ... ... their mobile app offering. The new app provides a modern design with a ... overall shopping experience. , The fred’s Pharmacy mobile app includes hundreds of digital ...
(Date:9/19/2017)... ... 19, 2017 , ... With Netmail Hadron, construction ... United States, can easily manage all of their data, apply policies on that ... simultaneously. “As a construction company,” says Ryan Sinnwell, the Infrastructure Manager at The ...
(Date:9/18/2017)... (PRWEB) , ... September 19, 2017 , ... Sarantos ... Fiction Fantasy Book This December , Sarantos is proud to be the 1st (and ... off every new song release. A new song, music video, book chapter and behind ...
Breaking Medicine News(10 mins):
(Date:9/6/2017)... Sept. 6, 2017  Medical professionals are ... skills while treating their patients. Medical simulations ... without involving patients. Simulation provides a safe ... carry out procedures, refine techniques and build ... of new technology, such as augmented reality, ...
(Date:9/5/2017)... KEYSTONE, Colo. , Sept. 5, 2017 ... their XR-29 DoseCheck solution. Scannerside DoseCheck is a third-party ... update existing CT scanners and allows compliance with current ... The Sapheneia-Scannerside proprietary XR 29 DoseCheck solution is specifically ... notifications and alerts of potential radiation doses over a ...
(Date:9/5/2017)... , Sept. 5, 2017 Oramed Pharmaceuticals Inc. ... ), a clinical-stage pharmaceutical company focused on the development ... has successfully concluded its meeting with the U.S. Food ... oral insulin formulation. ... the regulatory pathway for submission of ORMD-0801, would be ...
Breaking Medicine Technology: