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:9/18/2014)... that when people are too stressed they are often ... Brain Mind Institute (BMI) at EPFL have just highlighted ... chronic stress and the loss of social skills and ... a synaptic regulatory molecule in the brain. This was ... . , Carmen Sandi,s team went to look ...
(Date:9/18/2014)... world, are the ideal animal in which to study ... the ocean into tens of thousands of freshwater streams ... skeleton to adapt to the new environment. , Breeding ... have turned up one of the genes that controls ... that gene,s regulation in a freshwater population is associated ...
(Date:9/18/2014)... invisible is probably the ultimate form of camouflage: you ... And this strategy is not as uncommon as you ... Baltimore County, USA, explains that the larval life stages ... one part of the anatomy that most creatures cannot ... eyes have to shield each individual eye unit with ...
Breaking Biology News(10 mins):How stress tears us apart 2Counting fish teeth reveals regulatory DNA changes behind rapid evolution, adaptation 2Counting fish teeth reveals regulatory DNA changes behind rapid evolution, adaptation 3Transparent larvae hide opaque eyes behind reflections 2
... , This release is available in Spanish . ... Agriculture (USDA) scientists working as part of an international team have ... in the journal Nature reported today. The achievement ... speed up development of wheat varieties with enhanced nutritional value. ...
... part of their ongoing research on the role of ... Diabetes Center scientists, in collaboration with scientists at the ... associated with type 1 diabetes and other autoimmune diseases ... upcoming issue of Diabetes . Recent studies ...
... aestivum ) is one of the "big three" globally important ... Fully 35% of the world,s 7 billion people depend on ... scientists, including a group from Cold Spring Harbor Laboratory (CSHL), ... The study reveals the evolution of bread wheat ...
Cached Biology News:USDA scientists and cooperators sequence the wheat genome in breakthrough for global food security 2USDA scientists and cooperators sequence the wheat genome in breakthrough for global food security 3Joslin researchers increase understanding of genetic risk factor for type 1 diabetes 2Bread wheat's large and complex genome is revealed 2Bread wheat's large and complex genome is revealed 3
(Date:9/18/2014)... , Pennsylvanie, 18 septembre 2014 ... en 1974, a été depuis 40 ... les évaluations cliniques traditionnelles par des évaluations ... et sur les impacts économiques des traitements. ... A cours d,une récente ...
(Date:9/18/2014)...   Sigma-Aldrich Corporation (Nasdaq: ... a new gene editing partnership with the University ... the partnership, Sigma-Aldrich will provide the Vector Core ... dedicated gene editing bioinformaticians. The partnership ... the U-M Medical School. One initiative already underway, ...
(Date:9/18/2014)... 2014 OMICS Group International invites ... participate in the ‘Open Access Week’ by actively ... OMICS Group Pharma Journals from 20-26th October, ... fastest emerging Sciences, accelerating with a tremendous speed ... the globe. The industry is gearing with innovation ...
(Date:9/18/2014)... SeqLL Inc., the owner of ... today the closing of a $1M Series-A funding ... Diagnostic Technologies, will increase the power of tSMS™ ... in March 2013 by Daniel Jones, a former ... BioSciences, SeqLL has continued to offer Helicos’ sequencing ...
Breaking Biology Technology:1974 - 2014 - Mapi fête ses 40 ans 2Sigma-Aldrich, University of Michigan Medical School Establish CRISPR Core Lab Partnership 2Sigma-Aldrich, University of Michigan Medical School Establish CRISPR Core Lab Partnership 3Sigma-Aldrich, University of Michigan Medical School Establish CRISPR Core Lab Partnership 4Pharma and Omics Journals to Address Global Challenges during Open Access Week 2Pharma and Omics Journals to Address Global Challenges during Open Access Week 3SeqLL Closes Series-A Funding Round for Expansion of Single Molecule Sequencing 2
... ... sectors suffer, savvy investors like Prudential target healthcare , ... Minneapolis (Vocus) – Even as other commercial real ... healthcare real estate. Recent deals have included $250 million in new debt and $30 ...
... , BETHESDA, Md., July 30 Micromet, Inc. ... proprietary antibodies for the treatment of cancer, inflammation and autoimmune ... 14,000,000 shares of its common stock at a public offering ... are being offered by Micromet. The gross proceeds to ...
... , , , ... CRTX ), a specialty pharmaceutical company focused ... the respiratory and related markets, today announced that it ... a leading European pharmaceutical company headquartered in Parma, Italy. ...
Cached Biology Technology:Millions Flowing into Medical Real Estate 2Millions Flowing into Medical Real Estate 3Micromet Announces Pricing of Public Offering of Common Stock 2Micromet Announces Pricing of Public Offering of Common Stock 3Micromet Announces Pricing of Public Offering of Common Stock 4Cornerstone Therapeutics Announces Closing of Chiesi Transaction 2Cornerstone Therapeutics Announces Closing of Chiesi Transaction 3Cornerstone Therapeutics Announces Closing of Chiesi Transaction 4Cornerstone Therapeutics Announces Closing of Chiesi Transaction 5Cornerstone Therapeutics Announces Closing of Chiesi Transaction 6
... Last innovation from Magnetofection technology, SilenceMag ... system available. Simple, rapid and easy ... and non toxic. Specifically designed for ... silencing at very low doses of ...
... Purity is >95%NEN Radiolabeled Ligands\n\nReceptor-related research has ... of new radiolabeled ligands selected to keep ... wide range of products and services for ... 400 state-of-the-art radioligands. If you do not ...
... The Fluorescence Test Plate consists of an ... with Inert Organic Fluorescent Compounds embedded in ... used on BioTeks FLx800 and Synergy Multi-Detection ... for GLP compliance while reducing the need ...
... Feature Extraction Software reads and ... to prepare microarray data for ... * one 2-year license ... NFP/Academic accounts , * ...
Biology Products: