Featured Research

from universities, journals, and other organizations

Gene mutation shown to cause leukemia and lymphedema

Date:
September 5, 2011
Source:
University of St George's London
Summary:
Researchers have discovered a gene that when mutated can cause lymphedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukemia. The identification of the gene responsible for causing this rare combination of medical conditions, known as Emberger syndrome, could allow earlier identification and treatment of those at risk.

Researchers have discovered a gene that when mutated can cause lymphedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukemia. The identification of the gene responsible for causing this rare combination of medical conditions, known as Emberger syndrome, could allow earlier identification and treatment of those at risk.

Related Articles


This study, which is published online in the journal Nature Genetics on Sept. 4, showed that it is caused by a mutation in the GATA2 gene.

Mutations in this gene have very recently been associated with the development of leukemia and immunodeficiency but had not previously been linked to lymphedema.

The study was led by a team at St George's, University of London and St George's Hospital. The researchers recruited eight patients with Emberger syndrome, two of whom had a family history of the condition. In collaboration with colleagues at Kings College London, they carried out Next Generation Sequencing (a new technique which can rapidly sequence all the genes in the human genome) on these patients to identify any genetic patterns that could provide clues about the disease. All eight patients had a mutation in the GATA2 gene.

Consultant geneticist, Dr Sahar Mansour, who led the study with Professors Steve Jeffery and Peter Mortimer, said: "Emberger syndrome affects only a handful of people in the UK. However, little is known about the development of both the lymphatic system or leukemia This gene obviously has a crucial role in both and is an important piece of the jigsaw puzzle. It may lead to a better understanding of why these problems develop and eventually target treatment for both."

The identification of a mutation in GATA2 adds to the increasing number of genes responsible for causing Primary Lymphedema. It is the fourth gene to be associated with the condition to be identified at St George's, which runs the UK's only specialist clinic for primary lymphedema.

Professor Mortimer who runs this specialist clinic said: "The genetic causes of lymphedema are important developments in the understanding of both cause and mechanism for lymphatic disorders which are a neglected area of clinical practice. Gene testing is already changing the means by which lymphedema is categorised and diagnosed. In the future it will lead to treatment through drugs acting on molecular targets."


Story Source:

The above story is based on materials provided by University of St George's London. Note: Materials may be edited for content and length.


Journal Reference:

  1. Pia Ostergaard, Michael A Simpson, Fiona C Connell, Colin G Steward, Glen Brice, Wesley J Woollard, Dimitra Dafou, Tatjana Kilo, Sarah Smithson, Peter Lunt, Victoria A Murday, Shirley Hodgson, Russell Keenan, Daniela T Pilz, Ines Martinez-Corral, Taija Makinen, Peter S Mortimer, Steve Jeffery, Richard C Trembath, Sahar Mansour. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics, 2011; DOI: 10.1038/ng.923

Cite This Page:

University of St George's London. "Gene mutation shown to cause leukemia and lymphedema." ScienceDaily. ScienceDaily, 5 September 2011. <www.sciencedaily.com/releases/2011/09/110905090001.htm>.
University of St George's London. (2011, September 5). Gene mutation shown to cause leukemia and lymphedema. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2011/09/110905090001.htm
University of St George's London. "Gene mutation shown to cause leukemia and lymphedema." ScienceDaily. www.sciencedaily.com/releases/2011/09/110905090001.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
Dads-To-Be Also Experience Hormone Changes During Pregnancy

Dads-To-Be Also Experience Hormone Changes During Pregnancy

Newsy (Dec. 18, 2014) A study from University of Michigan researchers found that expectant fathers see a decrease in testosterone as the baby's birth draws near. Video provided by Newsy
Powered by NewsLook.com
Prenatal Exposure To Pollution Might Increase Autism Risk

Prenatal Exposure To Pollution Might Increase Autism Risk

Newsy (Dec. 18, 2014) Harvard researchers found children whose mothers were exposed to high pollution levels in the third trimester were twice as likely to develop autism. Video provided by Newsy
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
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