Navigation Links
Ironing out the genetic cause of hemoglobin problems
Date:10/11/2009

A gene with a significant effect on regulating hemoglobin in the body has been identified as part of a genome-wide association study, which looked at the link between genes and hemoglobin level in 16,000 people. The research was carried out by scientists from Imperial College London and published in Nature Genetics today. It shows a strong association between a gene known as TMPRSS6 and the regulation of hemoglobin.

Hemoglobin is contained within red blood cells and is essential for transporting oxygen around the body. Problems with hemoglobin production cause common diseases, such as anaemia, which comes from low levels of hemoglobin and is found in 25% of the world's population.

"This new finding is critical: understanding how hemoglobin levels are controlled at a genetic level has significant public health implications for people of all ages in developing and developed countries", explains Dr John Chambers, from the Department of Epidemiology and Public Health at Imperial College London and one of the lead authors of the study.

"Abnormally high or low levels are associated with a range of serious health problems, such as poor growth (low levels) and increased risk of stroke (high levels). Changes in hemoglobin levels can also affect our susceptibility to diseases like malaria, which infect the red blood cells" says Professor Kooner, from the National Heart and Lung Institute at Imperial College London and the study's chief investigator.

The new research adds to our understanding of the multiple causes of problems with hemoglobin levels, which include an iron-deficient diet, chronic diseases such as cancer, and genetic associations, such as the one described in this paper. In the future, the finding could lead to new treatments for people suffering from chronic problems with hemoglobin levels not linked to iron in the diet.

"The enzyme protein produced by the TMPRSS6 gene is a good target for drug development. Designing a drug that enhances TMPRSS6 activity could augment hemoglobin in people such as cancer and kidney failure patients, who suffer from chronically low levels. A different drug that blocked TMPRSS6 enzyme production might bring down high hemoglobin levels", adds Dr Chambers.

The new paper is published as part of a series of new findings on links between genes and regulation of blood cell characteristics. The Imperial research focuses on two unique aspects in particular.

First, the genomic analysis is based on individuals of European and Indian Asian ancestry, and shows a strong link in both populations, emphasising the global relevance of the finding, by showing it is not confined to individual ancestries.

Second, the paper includes evidence for how the genetic variant affects TMPRSS6 function at a molecular level, and shows that the genetic variation causes an amino acid change near the enzyme's active site, that is likely to affects the way TMPRSS6 reacts with target molecules.


'/>"/>

Contact: Lucy Goodchild
lucy.goodchild@imperial.ac.uk
44-207-594-6702
Imperial College London
Source:Eurekalert

Related medicine news :

1. Feinstein Investigators Receive Federal GO Grant to Study the Genetics of Schizophrenia
2. A study to prevent sudden death in sports by means of genetic testing
3. Scripps Pioneers Individualized Medicine by Offering Genetic Testing to Stent Patients
4. The American Society of Human Genetics to Host Press Briefing on 'Personalized Medicine and the Future of Health Care Practice' at 59th Annual Meeting
5. Genetic variation of enzyme linked with outcomes for women receiving tamoxifen
6. IBM Research Aims to Build Nanoscale DNA Sequencer to Help Drive Down Cost of Personalized Genetic Analysis
7. New type of genetic change identified in inherited cancer
8. UCLA study identifies 2 chemicals that could lead to new drugs for genetic disorders
9. Johns Hopkins epigenetic center receives $16.8 million NIH grant
10. Cancer predisposition from genetic variation shows strong gender bias
11. Genetics Linked to Early Sexual Activity in Kids
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... California (PRWEB) , ... June 27, 2016 , ... "FCPX ... fully customizable inside of Final Cut Pro X," said Christina Austin - CEO of ... unique style. Final Cut Pro X users can now reveal the media ...
(Date:6/27/2016)... ... June 27, 2016 , ... ... technology to revolutionize the emergency ambulance transport experience for the millions of people ... how Uber has disrupted the taxi industry through the use of technology. Now, ...
(Date:6/26/2016)... ... June 26, 2016 , ... On June 10-11, 2016, A Forever ... Cereal Festival and World’s Longest Breakfast Table in Battle Creek, MI, where the rehabilitation ... as home to some of the world’s leading providers of cereal and other breakfast ...
(Date:6/26/2016)... ... ... Brent Kasmer, a legally blind and certified personal trainer is helping to develop a weight ... app plans to fix the two major problems leading the fitness industry today:, ... program , They don’t eliminate all the reasons people quit their exercise program ...
(Date:6/25/2016)... ... June 25, 2016 , ... Austin residents seeking Mohs ... College of Mohs Surgery and to Dr. Russell Peckham for medical and surgical dermatology. ... treatment for skin cancer. The selective fellowship in Mohs Micrographic Surgery completed by Dr. ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... June 24, 2016 Research ... "Structural Electronics 2015-2025: Applications, Technologies, Forecasts" ... In-Mold Electronics, Smart Skin, Structural Health ... Structural electronics involves electronic and/or electrical ... structures, replacing dumb structures such as vehicle bodies ...
(Date:6/24/2016)... -- According to a new market research ... Safety Pen Needles), Needle Length (4mm, 5mm, 6mm, 8mm, ... Purchase (Retail, Non-Retail) - Trends & Global Forecasts to ... for the forecast period of 2016 to 2021. This ... 2021 from USD 1.65 Billion in 2016, growing at ...
(Date:6/23/2016)... June 23, 2016 Research and Markets ... Market - Forecast to 2022" report to their offering. ... method for the patients with kidney failure, it replaces the ... from the patient,s blood and thus the treatment helps to ... chloride in balance. Increasing number of ESRD ...
Breaking Medicine Technology: