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:2/21/2017)... ... February 21, 2017 , ... Doctors on Liens has ... by Dr. Kendell Mendonca , to its growing network of doctors in Central ... injuries stemming from car accidents such as whiplash, back pain, neck pain, hip and ...
(Date:2/21/2017)... Carrollton, Ga. (PRWEB) , ... February 21, 2017 , ... ... industry. To simplify the secure exchange of data across industry solutions, Fogo Data ... in the power of community. A healthy community is one in which all ...
(Date:2/21/2017)... ... February 21, 2017 , ... ... the predictive analytic firm Predixion’s Healthcare IT practice. Predixion, which raised $42M+ to ... backed by giants including Accenture, GE Ventures, and Software AG , will ...
(Date:2/21/2017)... ... February 21, 2017 , ... CLICKco LLC, a company dedicated ... are now available for purchase on RonnieColemanNutrition.com, a popular website for health and ... health-conscious consumers who love coffee but are looking to add more protein to ...
(Date:2/20/2017)... ... , ... Nancy Johnston Toll marks her debut in the publishing ... Bump in the Road ” (published by Xlibris). Inspired from her personal experiences, this ... ups and downs experienced by anyone going through cancer treatment and how one can ...
Breaking Medicine News(10 mins):
(Date:2/21/2017)... JOSE, Calif. , Feb. 21, 2017 Cadence ... that its Cadence ® Tensilica ® Fusion F1 ... ™ MAC IP offering. The licensable IP targets SoCs ... city and industrial applications. M2B leveraged the Fusion F1 DSP ... run value-added applications like voice trigger, audio identification and sensor ...
(Date:2/21/2017)... Research and Markets has announced the addition of the "Liver Cirrhosis ... ... Cirrhosis Drugs Price Analysis and Strategies - 2016, provides drug pricing data ... answers the following questions: What are the key ... positioned in the Global Liver Cirrhosis market? What are ...
(Date:2/21/2017)... , Feb. 21, 2017 Research and Markets has ... - 2016" report to their offering. ... The latest research Rosacea Drugs Price Analysis and Strategies ... market. The research answers the following questions: ... attributes? How are they positioned in the Global Rosacea market? ...
Breaking Medicine Technology: