Navigation Links
New inherited neurometabolic disorder discovered

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 Wedell, Professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet. Dr Wedell is also affiliated to Centre for Inherited Metabolic Diseases at the Karolinska University Hospital, the Center for Molecular Medicine, and the Science for Life Laboratory in Stockholm.


Contact: Press Office
Karolinska Institutet

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:
(Date:10/29/2015)... Minn. , Oct. 29, 2015   MedNet ... supports the entire spectrum of clinical research, is pleased ... Minnesota High Tech Association (MHTA) as one of only ... in the "Software – Small and Growing" category. The Tekne ... individuals who have shown superior technology innovation and leadership. ...
(Date:10/29/2015)... , Oct. 29, 2015  Rubicon Genomics, Inc., ... U.S. distribution of its DNA library preparation products, ... Rubicon,s new ThruPLEX Plasma-seq kit. ThruPLEX Plasma-seq has ... preparation of NGS libraries for liquid biopsies--the analysis ... and prognostic applications in cancer and other conditions. ...
(Date:10/29/2015)... , Oct. 29, 2015 Today, ... a partnership with 2XU, a global leader in ... a smart hat with advanced bio-sensing technology. The ... athletes to monitor key biometrics to improve overall ... partnership, the two companies will bring together the most ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... 2 nouvelles études permettent d , identifier ... souches bactériennes retrouvées dans la plaque dentaire des ... Ces recherches  ouvrent une nouvelle voie ... l,un des problèmes de santé les plus fréquemm ... --> 2 nouvelles études permettent d , ...
(Date:11/25/2015)... ... November 25, 2015 , ... A long-standing ... Aerospace Professionals (OPBAP) has been formalized with the signing of a Memorandum of ... with OPBAP leaders Capt. Karl Minter and Capt. Albert Glenn Tuesday, November 24, ...
(Date:11/24/2015)... ... November 24, 2015 , ... The United States Golf ... the 2016 USGA Green Section Award. Presented annually since 1961, the USGA Green Section ... her work with turfgrass. , Clarke, of Iselin, N.J., is an extension ...
(Date:11/24/2015)... ... November 24, 2015 , ... International Society for Pharmaceutical Engineering ... premier annual events for pharmaceutical manufacturing: 2015 Annual Meeting. The conference took place ... the largest number of attendees in more than a decade. , “The ...
Breaking Biology Technology: