Navigation Links
Modern genetics answers age-old question on Garrod's fourth inborn error of metabolism
Date:10/31/2011

Fifty years after participating in studies of pentosuria, an inherited disorder once mistaken for diabetes, 15 families again welcomed medical geneticists into their lives. Their willingness to have their DNA analyzed with advanced genomics technologies has solved a mystery more than a hundred years old.

Researchers from the University of Washington, Israel, and Switzerland reported the solution in the Oct. 31 Early Edition of the Proceedings of the National Academy of Sciences.

Their findings may help elucidate historical and geographical patterns of genetic mutations -- when and how human mutations appear and are carried over generations and with migration of human populations.

Pentosuria occurs almost exclusively in Ashkenazi Jews, whose ancestors trace back to the Middle Ages in Central or Eastern Europe. Traditionally, Ashkenazi Jews have married within their religious and ethnic group.

Dr. Arno Motulsky, professor emeritus of medicine, Division of Medical Genetics, and of genome sciences at the UW, and one of the founders of the discipline of medical genetics, was the senior author of the study. He was among the geneticist sleuths who tracked down the families and the genetic mutations responsible for the metabolic condition that ran in their families.

In the early and mid 20th century, clinical testing methods did not distinguish between pentosuria and diabetes mellitus. The confusion resulted in potentially dangerous treatment errors.

Diabetic patients have problems with increased levels of glucose, a six-carbon sugar, whereas pentosuria causes high levels of a five-carbon sugar, xylulose, in urine and blood. Pentosuria itself is completely harmless. But when pentosuria patients were misdiagnosed with diabetes and received insulin, their blood glucose levels plummeted and they suffered insulin reactions.

The diagnostic errors motivated New York City biochemist Margaret Lasker
'/>"/>

Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert  

Page: 1 2 3 4

Related biology news :

1. Invasion of genomic parasites triggered modern mammalian pregnancy
2. Evolutions past is modern humans present
3. Researchers discover oldest evidence of nails in modern primates
4. Modern fish communities live fast and die young
5. Modern EU agriculture jeopardizes biodiversity in new member states
6. Mummies tell history of a modern plague
7. Low-cost molecular medicine should be included in modern eye physicians tool kit
8. Living dinosaurs: The evolutionary history of modern birds
9. Paleontologists audition modern examples of ancient behavior
10. Ancient teeth raise new questions about the origins of modern man
11. 40-year-old test procedure finds modern niche in developing new medicines
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Modern genetics answers age-old question on Garrod's fourth inborn error of metabolism
(Date:1/22/2015)... Fla. , Jan. 13, 2015  Today, FreeWavz ... technology, launched its crowdfunding campaign on Fundable, ... the build of production capacity to meet customer ... Photo - http://photos.prnewswire.com/prnh/20150113/168790 ...
(Date:1/22/2015)... Washington , January 20, 2015 Investorideas.com, ... tech stocks, releases video from the CES 2015 (Consumer Electronics ... Apollo Robbins . Apollo shows how easily ... smart wallet, a product of NXT-ID, Inc. (NASDAQ: ...
(Date:1/22/2015)... CHARLOTTE, N.C. , Jan. 22, 2015 Infinisource has ... introduction of the G2 model. The G2 sets a higher ... company,s iSolved human capital management solution. With plug-and-play installation, touch ... G2 time clock provides a robust time collection solution for ...
Breaking Biology News(10 mins):FreeWavz Launches on Fundable to Drive Speed-to-Market in 2015 2Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 2Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 3Infinisource's NXG series sets new time clock standard 2
... research group from the University of Leeds has shown that ... in 10-20 per cent of the UK,s population, directly affects ... brain. Their findings are the first to demonstrate ... affect dopamine levels. Whilst the work has been ...
... new study on greenhouse gas emissions from oil palm ... levels of CO 2 emissions than previously thought ... could be costing the earth. The study from ... Council on Clean Transportation, an international think tank that ...
... A major European joint research project has kicked ... make earth measurements which are sufficiently accurate to make ... project is a consortium of European National Measurement Institutes ... and will devote some 28 man years of effort ...
Cached Biology News:Brain parasite directly alters brain chemistry 2New study suggests EU biofuels are as carbon intensive as petrol 2New study suggests EU biofuels are as carbon intensive as petrol 3New study suggests EU biofuels are as carbon intensive as petrol 4New European project launched to address shortcomings in climate data 2New European project launched to address shortcomings in climate data 3New European project launched to address shortcomings in climate data 4
(Date:1/22/2015)... zFlo Motion , a US leader in biomechanics software ... a new partner. STT-Systems has developed an impressive ... with offerings in the optical-motion capture, 3D scanning, and industrial ... unit), iSen, is opening eyes around the world. With no ...
(Date:1/22/2015)... (PRWEB) January 22, 2015 Diagenode, ... such as the Bioruptor® and complete solutions for ... for chromatin immunoprecipitation, alleviating the need for manual ... controls needed for ChIP of histones or transcription ...
(Date:1/22/2015)...   GenoSpace , a precision medicine software company that has ... use of genomic, imaging and other biomedical data in research ... Munson , CEO of Aspera, an IBM Company, to its ... http://photos.prnewswire.com/prnh/20150122/170713 "We are pleased to welcome ...
(Date:12/24/2014)... YORK , Dec. 24, 2014 PlasmaTech Biopharmaceuticals, Inc. ... critical areas, announced the closing of an underwritten public offering ... up to an aggregate 3,500,000 shares of common stock, at ... warrant.  The warrants have a per share exercise price of ...
Breaking Biology Technology:3D Motion Capture Just Got Easy 2Diagenode Launches Unique Semi-Automated Solution for Chromatin Immunoprecipitation 2GenoSpace Expands Board with Appointment of Michelle Munson 2PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 2PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 3
... MILWAUKEE The Medical College of Wisconsin ... Belmont Report, a historical document that laid the ethical ... the first time since the reports completion in 1979, ... Medical College to discuss its enduring impact on research ...
... my top priority has been growing the state's lagging ... on Job Creation, many pro-job initiatives authored and vetted ... bi-partisan basis. These bills have improved the state's energy ... a foundation for a more vibrant venture capital market. ...
... paychecks in your organization. Most of us can read an ... might even know one or two board members, shareholders or ... who your IT staff is really working for. For lack ... in your organization as they further the agenda of major ...
Cached Biology Technology:Belmont Report Commission reuniting for Medical College of Wisconsin Symposium 2Broadband freedom mandatory for growth 2Who does your IT staff work for? 2Who does your IT staff work for? 3
...
... Purification with an Affinity Chitin-binding Tag) utilizes ... splicing elements (termed inteins) to purify recombinant ... (Figures 1 and 2). This system distinguishes ... its ability to separate a recombinant protein ...
... Note: The kit contains all the reagents ... of NADPH-cytochrome c reductase activity in cell ... [endoplastic reticulum (ER)]. It has been tested ... as liver, kidney, brain, spleen, and heart ...
... CHEMICON's Skeletal Myogenesis Kit provides the ... myoblasts into mature skeletal myotubes. By ... is a valuable tool in studies ... in developing strategies for muscle cell ...
Biology Products: