Navigation Links
Scientists discover second-oldest gene mutation
Date:12/15/2011

COLUMBUS, Ohio A new study has identified a gene mutation that researchers estimate dates back to 11,600 B.C., making it the second oldest human disease mutation yet discovered.

Researchers with the Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute led the study and estimate that the mutation arose in the Middle East some 13,600 years ago. Only a mutation seen in cystic fibrosis that arose between 11,000 and 52,000 years ago is believed to be older.

The investigators described the mutation in people of Arabic, Turkish and Jewish ancestry. It causes a rare, inherited vitamin B12 deficiency called Imerslund-Grsbeck Syndrome (IGS).

The researchers say that although the mutation is found in vastly different ethnic populations, it originated in a single, prehistoric individual and was passed down to that individual's descendents. This is unusual because such "founder mutations" usually are restricted to specific ethnic groups or relatively isolated populations.

The findings were published recently in the Orphanet Journal of Rare Diseases.

"Diagnosing IGS is often time-consuming and inconclusive mainly because vitamin B12 deficiencies have many causes, so identifying this condition usually involves excluding other possibilities," says principal investigator Stephan M. Tanner, research assistant professor of molecular virology, immunology and medical genetics.

"Our findings permit reliable genetic diagnostics in suspected cases of IGS in that this mutation should be considered first when genetically screening patients from these populations."

Even in rare disorders, founder mutations can cause a significant fraction of all cases, he says. This mutation accounts for more than half of the cases in these populations and for about 15 percent of cases worldwide. "It is also often seen in expatriates living abroad," Tanner says.

IGS was identified just ov
'/>"/>

Contact: Darrell E. Ward
Darrell.Ward@osumc.edu
614-293-3737
Ohio State University Medical Center
Source:Eurekalert

Page: 1 2

Related biology news :

1. Jefferson scientists deliver toxic genes to effectively kill pancreatic cancer cells
2. Scientists identify novel inhibitor of human microRNA
3. Argonne scientists peer into heart of compound that may detect chemical, biological weapons
4. MU scientists go green with gold, distribute environmentally friendly nanoparticles
5. Scientists identify gene that may contribute to improved rice yield
6. Scientists discover why a mothers high-fat diet contributes to obesity in her children
7. MU scientists see how HIV matures into an infection
8. Earth scientists keep an eye on Texas
9. Thinking it through: Scientists call for policy to guide biofuels industry toward sustainability
10. Scientists identify a molecule that coordinates the movement of cells
11. Scientists Find new migratory patterns for Mediterranean and Western Atlantic bluefin tuna
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/19/2015)... May 19, 2015 ... the addition of the  "Genetic Testing Market ... (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , ,A recent report, Genetic ... analysis of the current and future genetic ... tests, their working principles and types are ...
(Date:5/11/2015)... JOSE, Calif. , May 11, 2015 /PRNewswire/ ... developer of human interface solutions, today announced the ... Vice President and Chief Financial Officer, reporting to ... Ali replaces Synaptics, current Chief Financial Officer, ... December 2014. Mr. Ali brings ...
(Date:5/8/2015)... 2015 Synaptics Inc. (NASDAQ: SYNA ), the ... of the executive management team will present at the following ... and Telecom Conference Date: May 18, 2015 Time: ... MA Cowen and Company Technology, Media ... Location: The New York Palace Hotel, New York, ...
Breaking Biology News(10 mins):Global Genetic Testing Market Outlook 2018 2Synaptics Appoints Wajid Ali as Senior Vice President and Chief Financial Officer 2Synaptics to Present at Upcoming Investor Conferences 2
... of widespread genetic sequencing, the ability to edit and alter ... information within and how it guides biological function. ... issue of the journal GENETICS takes genome editing ... level of fine control and, importantly, the transmission of those ...
... device invented at UCLA that conducts kidney tests and ... the need for frequent office visits by people with ... The smartphone-based device was developed in the research ... and bioengineering at the UCLA Henry Samueli School of ...
... study confirms that exposure to low to moderate amounts ... Doses of about 120 parts per billion of arsenic ... safeproduced lung damage comparable to decades of smoking tobacco. ... This is the first population-based study to clearly ...
Cached Biology News:Unprecedented control of genome editing in flies promises insight into human development, disease 2Unprecedented control of genome editing in flies promises insight into human development, disease 3UCLA researchers invent portable device for common kidney tests 2Study adds lung damage to harmful effects of arsenic 2Study adds lung damage to harmful effects of arsenic 3Study adds lung damage to harmful effects of arsenic 4
(Date:5/26/2015)... ANGELES , May 26, 2015 Mr. ... his family, thanks President Barack Obama and President ... during the time of loss of Dr. Rongxiang Xu ... humanitarian and a leader ahead of his time, Dr. Xu,s ... the community leave a legacy that will not be forgotten. ...
(Date:5/26/2015)... NEW YORK , May 26, 2015 ... NVGN ), announced today that it will present at the ... New York City at the Grand Hyatt ... Kelly , Novogen Chairman and CEO, is scheduled to begin at ... To access the webcast, go to http://wsw.com/webcast/marcum3/nvgn . ...
(Date:5/25/2015)... 2015 The 2015 Market Research ... a professional and in-depth study on the current ... with a focus on the Chinese situation. ... research are Linde Industrial Gas, Basf, Air Products, ... Xinlong Group, Longsheng Group, Juhua Group, Wandali Gas, ...
(Date:5/22/2015)... Warren, NJ (PRWEB) May 22, 2015 ... a new white paper that explores the potential of ... industries. The white paper was developed to help life ... they can leverage data to gain critical business insights. ... generated large amounts of data driven by patient profiling, ...
Breaking Biology Technology:Dr. Rongxiang Xu, Beyond A Legend 2Novogen to Present at the 2015 Marcum Microcap Conference 2Novogen to Present at the 2015 Marcum Microcap Conference 3Novogen to Present at the 2015 Marcum Microcap Conference 4Global Hydrogen Chloride Industry 2015 Trends and Analysis Available in a New Report at DeepResearchReports.com 2Global Hydrogen Chloride Industry 2015 Trends and Analysis Available in a New Report at DeepResearchReports.com 3New White Paper Explores the Potential of Big Data Analytics in Life Sciences and Healthcare 2
... /PRNewswire-FirstCall/ - Oncolytics Biotech Inc. (TSX:,ONC, NASDAQ: ONCY), announced ... will participate in two separate presentations at the,BIO 2008 ... a corporate overview of the,Company on Tuesday, June 17th ... On Wednesday, June 18th at 4:00 p.m. PT, ...
... NEWARK, N.J., June 12 BioNeutral announced today ... kill anthrax,spores on contact. This chemical technology is ... responders in conjunction with any suspected anthrax,exposure. "The ... formulation in as little as 15 seconds," said ...
... Senesco,Technologies, Inc. ("Senesco" or the "Company") (Amex: ... be presenting at the Business Forum during BIO ... being held at the San Diego Convention Center ... of Senesco, will deliver the,Company,s corporate presentation on ...
Cached Biology Technology:Oncolytics Biotech Inc. to Present at BIO 2008 International Convention 2BioNeutral Announces a BREAKTHROUGH in the Fight Against Bioterrorism 2Senesco Technologies to Present at BIO 2008 Business Forum 2
Alexa Fluor 647 anti-mouse IL-12 (Interleukin-12) / IL-23 (Interleukin-23) p40 25 ug...
BDFastImmune? IFN-gamma /CD69/CD4/CD3 Storage Temperature: Refrigerate(2 to 8C)...
MAb to Transferrin Dry Ice: No Preservative: NaN3 Availability When Not in Inventory: 14-21 Business Days...
Rabbit polyclonal to Phosphothreonine-X-Phosphotyrosine (HRP) ( Abpromise for all tested applications)....
Biology Products: