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
Scripps Research Institute

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:

(Date:7/31/2018)... ... July 31, 2018 , ... GSL Biotech ... with LabArchives , the leading cloud-based Electronic Lab Notebook (ELN) platform. , ... researchers to store all of their research data records in a secure, compliant online ...
(Date:7/29/2018)... ... 29, 2018 , ... Dr. William Plikerd, an evidence-based energy healer, today announces ... immunity and to combat inflammation and autoimmune disorders. , The preclinical research assessed ... reported:, Up to 260% increase overall immunity as seen ...
(Date:7/26/2018)... ... July 25, 2018 , ... Boston Biotech Conferences will ... 4, 2018 at The Hilton Boston Back Bay Hotel. This peer-to-peer meeting provides ... and dissect the most relevant deals in biotech. , George Golumbeski recently joined ...
Breaking Biology News(10 mins):
(Date:8/7/2018)... ... August 06, 2018 , ... Slone Partners, ... the placement of Dr. Paul Harney as President, North America at Prescient Healthcare ... and enhancing client satisfaction. He was also named to Prescient’s Board of Directors. ...
(Date:7/31/2018)... ... July 31, 2018 , ... ... years, announces the launch of their new website. The new website has been ... the site. Mahoney partnered with Proceed Innovative to build a website created for ...
(Date:7/25/2018)... ... July 25, 2018 , ... Vium, Inc. ... Digital Vivariumâ„¢ and Vium Cloud approach to accelerate preclinical drug discovery and development, ... the company announced the appointment of Jeff Caron to the newly formed role ...
(Date:7/24/2018)... ... July 24, 2018 , ... R3 Stem Cell is now offering regenerative therapies ... offered by Double Board Certified providers, with outcomes significantly improving patient quality of life. ... have done nothing to help repair and regenerate damaged lung tissues. Stem cell ...
Breaking Biology Technology:
Cached News: