Genetic form of anemia defined molecularly

Apr 01, 2010

Sideroblastic anemia is a form of anemia caused by an inability to incorporate iron into hemoglobin, something that is essential if the molecule is to perform its vital function of carrying oxygen from the lungs to the tissues.

Recently, a patient with sideroblastic anemia was found to have a mutation in their GLRX5 gene that led to GLRX5 protein deficiency.

Tracey Rouault and colleagues, at the National Institute of Child Health and Human Development, Bethesda, have now provided insight into how GLRX5 protein deficiency causes sideroblastic .

Specifically, they find that in human cells, GLRX5 is essential for generating iron-sulfur clusters (molecular groups that facilitate a wide range of cellular activities, including sensing of iron and ) and maintaining normal levels of iron in cellular compartments known as mitochondria and the cytosol.

Further analysis revealed a molecular explanation for why GLRX5 protein deficiency caused disease in only one cell type in the body, the red blood cell.

Explore further: Ultrasound enhancement provides clarity to damaged tendons, ligaments

More information: View this article at: www.jci.org/articles/view/4037… 98303ee336645ed7c280

Provided by Journal of Clinical Investigation

not rated yet
add to favorites email to friend print save as pdf

Related Stories

Iron and copper relationship is studied

Jul 24, 2007

U.S. scientists studying the relationship of iron and copper in the body have found when iron absorption by cells decreases, copper absorption increases.

Blood protein offers help against anemia

Jan 26, 2010

A new study shows that a protein found in blood alleviates anemia, a condition in which the body's tissues don't get enough oxygen from the blood. In this animal study, injections of the protein, known as transferrin, also ...

Iron supplements might harm infants who have enough

May 05, 2008

A new study suggests that extra iron for infants who don't need it might delay development -- results that fuel the debate over optimal iron supplement levels and could have huge implications for the baby formula and food ...

Scientists show why cells starved of iron burn more glucose

Jun 09, 2008

Duke University Medical Center scientists have found a mechanism that allows cells starved of iron to shut down energy-making processes that depend on iron and use a less efficient pathway involving glucose. This metabolic ...

Recommended for you

A better way to track emerging cell therapies using MRIs

Sep 19, 2014

Cellular therapeutics – using intact cells to treat and cure disease – is a hugely promising new approach in medicine but it is hindered by the inability of doctors and scientists to effectively track the movements, destination ...

User comments : 0