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Iron Metabolism Gene Is Mutated In Hemochromatosis (Iron Overload) Disorder

 
  July, 2 2001 2:30
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Iron overload

Regulation of iron levels-or iron metabolism-is an essential process in the body. Too little iron and one becomes anemic, a consequence of insufficient haemoglobin (the oxygen-transporting protein in the blood). The simple solution: increase iron intake. But too much iron can be just as bad, or even worse. Normally the body can rid itself of the excess, but when it can't, the result is hemochromatosis - or iron overload. This can severely damage organs such as the heart and liver, and eventually lead to diabetes or cancer. Hemochromatosis can be inherited - caused by mutations in the genes essential to iron metabolism, some (but not all) of which have been identified - and the condition is quite common, found in nearly one of 200 individuals of Northern European descent.

Researchers have now identified another player associated with disruption of iron metabolism (Nature Genetics, Vol. 28, No. 3, 01 July 2001). By studying a large Dutch family in which hemochromatosis was prevalent, Peter Heutink (of Erasmus University Rotterdam) and colleagues identified a narrow segment on one chromosome that was shared between individuals who were afflicted with the disorder. Then, taking advantage of the complete human genome sequence, the researchers found a gene, SLC11A3, that was similar to other genes already known to function in iron metabolism. When they examined this gene in affected family members, it was found to contain a mutation that was predicted to alter its ability to bind iron. The authors point out that manipulation of the levels of gene product could conceivably be used not only to prevent hemochromatosis but also, anemia.

CONTACT:

Dr. Peter Heutink
Erasmus University Rotterdam
Rotterdam, The Netherlands
Telephone: +31 10-408-8136
Fax: +31 10-408-9489
Email: heutink@kgen.fgg.eur.nl

Dr. Susan Hayflick
Oregon Health and Science University
Portland, Oregon, USA.
Telephone: +1 (503) 494-6866
Fax: +1 (503) 494-4411
Email: hayflick@ohsu.edu

(C) Nature Genetics press release.


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