Navigation Links
New inherited neurometabolic disorder discovered
Date:9/30/2011

Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase.

The findings, which are presented in the American Journal of Human Genetics, were made possible through the detailed biochemical examination of a Swedish family in which two children suffered from progressive brain damage and abnormal liver function that could not be traced to known mechanisms. One symptom displayed by the children was the impaired metabolism of the amino acid methionine. By sequencing all protein-coding gene sequences in the family a process known as whole-exome sequencing the team was able to identify a gene the function of which matched the biochemical abnormality. Whole-exome analyses were conducted at the Science for Life Laboratory (SciLifeLab) in Stockholm. Two additional unrelated families could then be identified with the same clinical profile and mutations in the same disease gene.

The findings illustrate the strength of combining the detailed biochemical examination of patients with the large-scale methods of analysing our genetic makeup that have recently become available, in order to expose new mechanisms behind congenital diseases. Modern tools of genetic analysis make it considerably easier to identify the damage responsible for hereditary diseases, which is essential if the affected families are to receive correct information about their disease. It is also a critical first step towards the development of new therapies.

The newly discovered disease, adenosine kinase deficiency, sheds light on an unexpected functional link between two known metabolic processes: the methionine cycle and adenosine/AMP metabolism, thus revealing a previously unknown pathogenetic mechanism. The study was led by Dr Anna W
'/>"/>

Contact: Press Office
pressinfo@ki.se
46-852-486-077
Karolinska Institutet
Source:Eurekalert

Page: 1 2

Related biology news :

1. Fail-safe system may lead to cures for inherited disorders
2. Mutations not inherited from parents cause more than half the cases of schizophrenia
3. Mutant flies shed light on inherited intellectual disability
4. Genetic testing for inherited cardiac conditions is patchy in Europe
5. Non-coding RNA has role in inherited neurological disorder -- and maybe other brain diseases too
6. Cancer drug holds promise as first treatment for common, inherited dementia
7. New gene test offers personalized treatment for inherited neuromuscular disorder
8. Teacher effort is linked to difficult students inherited traits
9. Transcription factor scan identifies genetic cause for inherited blindness
10. Capacity for exercise can be inherited, UC Riverside biologists find
11. Using fish to illuminate the architecture of inherited disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/28/2014)... MARC (Maximizing Access to Research Careers) Program has ... College of Sports Medicine,s Conference on Integrative Physiology ... Florida. These awards are meant to promote ... from underrepresented groups into the mainstream of the ... of young scientists at the American College of ...
(Date:8/28/2014)... German . Cars, ... help of sophisticated assembly lines. Mobile assembly carriers, on to ... these assembly lines. In the case of a car body, ... in a precise spatial and chronological sequence, resulting in a ... creation of such an assembly line at molecular level has ...
(Date:8/28/2014)... assigned a number of 435-million-year-old fossils to a ... in shallow marine habitats and were far less ... , Before they sank to the bottom ... some 435 million years ago, these arthropods preyed ... although they were not exactly inconspicuous, possessing a ...
Breaking Biology News(10 mins):Nanoscale assembly line 2Nanoscale assembly line 3Paleontology: Oldest representative of a weird arthropod group 2
... When you think you see a face in the clouds or ... be upside down. It turns out the answer to this ... to. Using tests of visual perception and functional magnetic resonance ... Ontario,s world-renowned Centre for Brain & Mind recently measured activity in ...
... Mention vitamin D-fortified foods and most people think ... vitamin since the 1930s. A new episode in the ... series says that vitamin D-fortified bread could join milk ... is difficult to get naturally in foods. ...
... Minnesota,s College of Biological Sciences, has been awarded a five-year, ... direct a large-scale research effort to study a human antiviral ... The goal of the study will be to produce ... how it interacts with other proteins in human cells and ...
Cached Biology News:U of M scientist gets 5-year, $10 million grant to direct innovative HIV research program 2
(Date:8/28/2014)... 28, 2014 “This kit has an improved ... from 0 to 150 ppb,” said Mark Tess, PhD, Mycotoxin ... benefit to plant owners and USDA-GIPSA inspection agencies that have ... Testing can take place in a matter of minutes with ... plant test the feed and grain before accepting it, but ...
(Date:8/28/2014)... PA (PRWEB) August 28, 2014 The ... create a culture that will allow individuals to perform ... becoming increasingly important for employers looking to compete in ... industries are embracing this trend, as the sector increasingly ... of a company, which will have real results on ...
(Date:8/28/2014)... PARK, Calif. , Aug. 28, 2014 /PRNewswire/ ... focused on developing novel mid- to late-stage cardiovascular ... $7.0 million in its first round of financing. ... Biomedical Investments and Hercules Bioventures with participation from ... entrepreneur and pharmaceutical executive, Dr. Larry Hsu ...
(Date:8/28/2014)... (PRWEB) August 28, 2014 Earlier this ... University in partnership with the U.S. Air Force ... biofuel. The results indicated that this type of fuel ... feedstock and will be important to America’s Eco friendly ... now has a mandate to become independent of foreign ...
Breaking Biology Technology:Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 2Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 3Armetheon Completes $7.0 Million Series A Financing 2Armetheon Completes $7.0 Million Series A Financing 3Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 2Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 3Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 4Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 5
... Therapeutics Corporation,announced today that it has entered into ... SHPGY, TSX: SHQ), to jointly develop AT-1001,Alba,s lead ... Shire will receive rights to commercialize all forms ... Alba will retain all rights,to commercialize AT-1001 in ...
... Dec. 14 Isis,Pharmaceuticals, Inc. (Nasdaq: ISIS ... promoted B. Lynne Parshall, J.D. to Chief Operating ... Chief Financial,Officer, and is a Director of the ... reflects the scope,of Lynne,s responsibilities at Isis," commented ...
... PHILADELPHIA, Dec. 14 FMC Corporation (NYSE:,FMC) ... announced the companies,have entered into a worldwide ... a novel capsule technology developed by FMC. ... strengthen,the product life-cycle management of Pronova BioPharma,s ...
Cached Biology Technology:Alba Therapeutics Corporation and Shire plc Enter Into $325 Million ex-US, ex-Japan Licensing Agreement to Develop and Commercialize AT-1001 2Alba Therapeutics Corporation and Shire plc Enter Into $325 Million ex-US, ex-Japan Licensing Agreement to Develop and Commercialize AT-1001 3Isis Announces Appointment of B. Lynne Parshall as Chief Operating Officer 2Isis Announces Appointment of B. Lynne Parshall as Chief Operating Officer 3FMC Corporation and Pronova BioPharma Announce Agreement To Develop New Alginate-Based Capsule Products 2FMC Corporation and Pronova BioPharma Announce Agreement To Develop New Alginate-Based Capsule Products 3FMC Corporation and Pronova BioPharma Announce Agreement To Develop New Alginate-Based Capsule Products 4
... Recognizes an epitope located in ... isotype IV. No reactivity with ... ascites fluid synthetic peptide corresponding ... β-tubulin isotype IV, conjugated to ...
Porcine Coronary Artery Smooth Muscle Cells (PCASMC) (>500,000 cells)...
Porcine Aortic Endothelial Cells (PAOEC) (>500,000 cells)...
... catalyzes the joining of two strands of ... groups of adjacent nucleotides in either a ... has also been shown to catalyze the ... or RNA strand in a duplex molecule ...
Biology Products: