HOME >> BIOLOGY >> NEWS
Scientists at The Scripps Research Institute show most people with the genetic mutation for an iron-storage disease stay healthy

A disease that was once thought to be the most common genetic disorder of Europeans has now been shown by scientists at The Scripps Research Institute (TSRI) to be relatively rare.

In what was one of the largest DNA-based genetic epidemiological studies ever conducted, TSRI researchers working with the Health Appraisal Clinic at Kaiser-Permanente in San Diego examined the DNA and clinical data of some 41,000 patients, looking for the genetic disease hereditary hemochromatosis, a metabolic disorder in which excessive amounts of iron are deposited in the liver, pancreas, and other organs. Hereditary hemochromatosis can lead to cirrhosis of the liver, diabetes, and cardiovascular disease, and the severe form of the disease can be lethal.

Although the mutation that causes hereditary hemochromatosis is common, the disease itself is rare, concludes study leader Ernest Beutler, M.D., who is Chairman of TSRI's Department of Molecular and Experimental Medicine and Professor, The Skaggs Institute for Chemical Biology. Even people with two copies of the genetic mutation that causes the disease hereditary hemochromatosis (so-called homozygotes) are very unlikely to become ill from it, the study finds.

A modest number of homozygotes do show minor abnormalities of liver function, but no symptoms. Most importantly, no difference was found in the life span of persons homozygous for the gene and those who do not carry it. The percentage of homozygotes in old people was the same as the percentage in young people, indicating that there is no attrition of homozygotes from the population. Presumably, other factors in addition to the gene mutation are required to cause the actual disease.

Beutler and his colleagues are careful to point out that it is very important to diagnose promptly those few patients who are severely affected because they can be treated quite simply and effectively by removing iron from the body by frequently drawing blood, as in
'"/>

Contact: Robin B. Goldsmith
rgoldsmi@scripps.edu
858-784-8134
Scripps Research Institute
17-Jan-2002


Page: 1 2 3 4

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/4/2017)... YORK , April 4, 2017   EyeLock ... today announced that the United States Patent and Trademark ... patent broadly covers the linking of an iris image ... same transaction) and represents the company,s 45 th ... latest patent is very timely given the multi-modal biometric ...
(Date:3/30/2017)... , March 30, 2017  On April 6-7, ... Hack the Genome hackathon at Microsoft,s headquarters ... two-day competition will focus on developing health and wellness ... Hack the Genome is the first ... tremendous. The world,s largest companies in the genomics, tech ...
(Date:3/30/2017)... NEW YORK , March 30, 2017 ... by type (physiological and behavioral), by technology (fingerprint, AFIS, ... recognition, voice recognition, and others), by end use industry ... travel and immigration, financial and banking, and others), and ... Europe , Asia Pacific ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... Texas (PRWEB) , ... October ... ... study published on October 5, 2017, in the medical journal, Epilepsia, Brain ... with the gold standard, video EEG, in detecting generalized tonic-clonic seizures (GTCS) ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... technologies, launched its ProxiMeta™ Hi-C metagenome deconvolution product, featuring the first commercially ... cloud-based bioinformatics software to perform Hi-C metagenome deconvolution using their own facilities, ...
(Date:10/6/2017)... Mass. (PRWEB) , ... October 06, 2017 , ... ... female entrepreneurship within the healthcare and technology sector at their fourth annual Conference ... panels featuring 30 inspiring speakers and the ELEVATE pitch competition showcasing early stage ...
(Date:10/5/2017)... CA (PRWEB) , ... October 05, 2017 , ... ... engineers, and scientists from around the world, is giving back to cancer research with ... in October. , Now through October 31, shoppers can use promo code PinkRibbon ...
Breaking Biology Technology:
Cached News: