Featured Research

from universities, journals, and other organizations

New disease gene discovery sheds light on cause of bone marrow failure

Date:
February 6, 2014
Source:
Queen Mary, University of London
Summary:
New research has identified a novel genetic defect among patients with bone marrow failure, which could reveal its underlying cause.

The study, published in The American Journal of Human Genetics, detected and identified a new disease gene (ERCC6L2). In its normal form, the gene plays a key role in protecting DNA from damaging agents, but when the gene is mutated the cell is not able to protect itself in the normal way.

Related Articles


The research findings suggest that the gene defect and the subsequent DNA damage was the underlying cause of bone marrow failure among the study participants.

Bone marrow failure is a term used for a group of life threatening disorders associated with an inability of the bone marrow to make an adequate number of mature blood cells.

Patients were recruited from all over the world to join an international bone marrow failure registry and researchers used new DNA sequencing technologies to study cases of bone marrow failure with similar clinical features. These included bone marrow failure associated with neurological abnormalities (learning defects and developmental delay), and patients whose parents were first cousins.

The findings mean it is now possible to carry out a reliable genetic test (including antenatal testing) in these families and get an accurate diagnosis. In the long term, with further research, the findings could lead to the development of new treatment for this specific gene defect.

Professor Inderjeet Dokal, Chair of Paediatrics and Child Health at Queen Mary University of London, comments:

"New DNA sequencing technology has enabled us to identify and define a new gene defect which causes a particular type of bone marrow failure. This is a promising finding which we hope one day could lead to finding an effective treatment for this type of gene defect. Clinicians treating patients with bone marrow failure should now include analysis for this gene in their investigation.

"Now we know this research technique works, we plan to carry out further studies to shed more light on the genetic basis of many other cases of bone marrow failure."


Story Source:

The above story is based on materials provided by Queen Mary, University of London. Note: Materials may be edited for content and length.


Journal Reference:

  1. Hemanth Tummala, Michael Kirwan, AmandaJ. Walne, Upal Hossain, Nicholas Jackson, Corinne Pondarre, Vincent Plagnol, Tom Vulliamy, Inderjeet Dokal. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function. The American Journal of Human Genetics, 2014; 94 (2): 246 DOI: 10.1016/j.ajhg.2014.01.007

Cite This Page:

Queen Mary, University of London. "New disease gene discovery sheds light on cause of bone marrow failure." ScienceDaily. ScienceDaily, 6 February 2014. <www.sciencedaily.com/releases/2014/02/140206133646.htm>.
Queen Mary, University of London. (2014, February 6). New disease gene discovery sheds light on cause of bone marrow failure. ScienceDaily. Retrieved February 28, 2015 from www.sciencedaily.com/releases/2014/02/140206133646.htm
Queen Mary, University of London. "New disease gene discovery sheds light on cause of bone marrow failure." ScienceDaily. www.sciencedaily.com/releases/2014/02/140206133646.htm (accessed February 28, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, February 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com
The Best Tips to Makeover Your Health

The Best Tips to Makeover Your Health

Buzz60 (Feb. 27, 2015) If you&apos;re looking to boost your health this season, there are a few quick and easy steps to prompt you for success. Krystin Goodwin (@Krystingoodwin) has the best tips to give your health a makeover this spring! Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins