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 over 50 years ago. It occurs in children born with two mutated copies of either the amnionless (AMN) or the cubilin (CUBN) gene. When a genetic mistake is present in both copies of either of these two genes, a person cannot absorb vitamin B12 in the small intestine, resulting in the deficiency.

Children with IGS experience a high risk of infections, fatigue, attention deficit, paralysis and, ultimately, a form of anemia that can be fatal if left untreated. An estimated 400 to 500 cases of IGS have been described worldwide thus far. The incidence rate remains unknown. The syndrome is treatable with life-long injections of vitamin B12.

For this study, the researchers examined a total of 20 patients, 24 parents, 8 unaffected siblings, and 4 grandparents from 16 IGS families. Because the researchers found the mutation in such diverse populations, they were unsure whether it was a true founder mutation that first arose in one individual and was passed down through many generations, or whether it was simply a mutation that recurred frequently over time in different populations.

Careful analysis of the gene sequences on either side of the mutation (i.e., the haplotype in both the Muslim and Jewish families), however, pointed to a single mutational event rather than repeated events.


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

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:3/21/2016)... , March 22, 2016 ... with passcodes for superior security   ... leading provider of secure digital communications services, today announced ... technology and offer enterprise customers, particularly those in the ... recognition and voice authentication within a mobile app, alongside, ...
(Date:3/15/2016)... -- Yissum Research Development Company of the Hebrew ... Hebrew University, announced today the formation of Neteera ... human biological indicators. Neteera Technologies has completed its first ... ... emissions from sweat ducts, enables reliable and speedy biometric ...
(Date:3/11/2016)... , March 11, 2016 ... new market research report "Image Recognition Market by Technology ... (Marketing and Advertising), by Deployment Type (On-Premises and Cloud), ... To 2022", published by MarketsandMarkets, the global market is ... to USD 29.98 Billion by 2020, at a CAGR ...
Breaking Biology News(10 mins):
(Date:4/28/2016)... The report "Cryocooler Market by ... (Technical Support, Product Repairs & Refurbishment, Preventive Maintenance, and ... 2022", published by MarketsandMarkets, the global market is expected ... a CAGR of 7.29% between 2016 and 2022. ... Figures spread through 159 Pages and in-depth TOC on ...
(Date:4/28/2016)... ... April 28, 2016 , ... ... Connecticut's innovative, growing companies, today announced the launch of VentureClash , a ... companies. , “VentureClash looks to attract the best early-stage companies here ...
(Date:4/28/2016)... ... 28, 2016 , ... As part of an ongoing global ... expanding its LATAM network and logistics capabilities. Enhancements have been made to ... trial projects. , The expansion will provide unmatched clinical trial logistics services for ...
(Date:4/27/2016)... ... ... Cambridge Semantics, the leading provider of Smart Data analytic and ... named to The Silicon Review’s “20 Fastest Growing Big Data Companies of 2016.” ... needs of end users facing some of the most complex data challenges in the ...
Breaking Biology Technology: