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:4/17/2014)... Several parasites and pathogens that devastate honeybees in Europe, ... Africa, but do not appear to be impacting native ... team of researchers., The invasive pests include including ... East African honeybees appear to be resilient to these ... used to control pests in Europe, Asia and the ...
(Date:4/17/2014)... France have hit on a novel method to ... correct and most effective treatment possible., Kidney stones ... and developing world. If left untreated, apart from ... failure and other complications. In many patients treated ... a more effective pathological approach to diagnosis and ...
(Date:4/17/2014)... painted a stark warning on the possible effects of ... effect 32 times that of carbon dioxide. Now a ... act as fully regenerable electron acceptors which helps explain ... instead of being released to the atmosphere. However, there ... may enter into a vicious cycle to release large ...
Breaking Biology News(10 mins):East African honeybees are safe from invasive pests… for now 2East African honeybees are safe from invasive pests… for now 3Methane climate change risk suggested by proof of redox cycling of humic substances 2
... PORTLAND, Ore. New research in mice indicates that babies ... during pregnancy have a higher fat mass and smaller livers ... at Oregon Health & Science University Doernbecher Children,s Hospital. ... who switch to a low-fat diet during pregnancy considerably reduce ...
... A team of researchers from the Georgia Institute of ... of Florida to study how the diversity of seaweed-eating fish ... Sept. 13, may provide new information to help scientists protect ... Led by Mark Hay, a Georgia Tech professor of biology, ...
... -- Pharmaceutical poisoning remains a common childhood injury, despite years ... packaging. Over half a million children are exposed to ... published in The Journal of Pediatrics attempts to ... reducing the number of childhood injuries due to pharmaceutical poisoning. ...
Cached Biology News:Moms who eat high-fat diet before, during pregnancy 'program' babies to be fat, at risk 2Study in underwater laboratory may help manage seaweed-eating fish that protect coral 2Study in underwater laboratory may help manage seaweed-eating fish that protect coral 3Study finds an increase of children accidentally poisoned with pharmaceuticals 2
(Date:1/15/2014)... England , January 15, 2014 A ... win races on the Formula 1 track could help to ... McLaren Applied Technologies (MAT), Stowhealth (a GP surgery based in ... by healthcare provider Simplyhealth. Telemetry technology, which is ...
(Date:1/15/2014)... (PRWEB) January 15, 2014 DTS Language ... its Online Web Portal for Life Science organizations who need ... specify the subject matter of their documents in advance with ... help reduce time-to-delivery of translations, often a critical factor in ...
(Date:1/15/2014)... TaiGen Biotechnology Company, Limited ("TaiGen") today announced that ... leading Russian pharmaceutical company, to develop and commercialize nemonoxacin ... , Turkey and other ... novel antibiotic for the treatment of bacterial infections including ...
(Date:1/14/2014)...  3D Communications, a leading provider of strategic communications services to corporations ... in the United States and ... , JD, is returning to the firm,s Washington, D.C. ... after more than two years of service as Associate Commissioner for ...
Breaking Biology Technology:Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 2Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 3Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 4DTS Improves Efficiency for Life Science Document Translations 2TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 2TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 3TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 4Former FDA Associate Commissioner Returns To 3D Communications 2
... , ... 13 Wound Management Technologies, Inc., (OTC Bulletin Board: WNDM), announced ... CellerateRX in Mexico and has identified its first distributor ... the Activated Collagen wound care product and were impressed with its ...
... , , ... bio-based chemical companies, including cellulosic ethanol pioneer Verenium Corporation ...  Qteros, Inc., a leading developer of second-generation technology solutions ... platform, announced today that John McCarthy has joined ...
... Mass. , Jan. 13 Toxikon, a successful, ... in the Greater Boston area, announces that ... the continued growth of the preclinical and clinical bioanalytical services ... to the organization from his prior roles in method development, ...
Cached Biology Technology:Wound Management Technologies, Inc. Rapidly Expands Its International Presence 2Wound Management Technologies, Inc. Rapidly Expands Its International Presence 3Wound Management Technologies, Inc. Rapidly Expands Its International Presence 4Biofuels Technology Leader Qteros Names Industry Veteran John McCarthy President and Chief Executive Officer 2Biofuels Technology Leader Qteros Names Industry Veteran John McCarthy President and Chief Executive Officer 3
IC50: 3 ng/ml · Limit of detection: 0.5 ng/ml...
Antibodies were affinity purified using epitopes specific to PPP1CC immobilized on solid support....
... EPS 3501 XL Power Supply, 1. 3500 ... constant current, constant power, and linear voltage ... to focused equilibrium in IPG strips quickly ... compensate for variations in gel thickness, sample ...
Human Aminopeptidase P1/XPNPEP1 Affinity Purified PAb Protein Family: Aminopeptidases, Metalloproteases...
Biology Products: