Navigation Links
Genetic disorder causing strokes and vascular inflammation in children has been discovered

Academy research fellows from University of Turku (Finland), Andrey and Anton Zavialov, and a team of researches from the National Institutes of Health (NIH), USA, discovered that inherited mutations in a blood enzyme called ADA2 cause a syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The novel genetic disorder was called deficiency of ADA2, or DADA2.

The disease has a broad range of symptoms and its severity varies significantly, which represent a problem for making an accurate diagnosis. Since the cause of the disease is now known, it will be possible to confirm DADA2 by gene sequencing or measuring the enzymatic activity of ADA2. The group of Dr. Andrey Zavialov is now working on development of novel DADA2 diagnostics. "The screening for mutations in ADA2 or its activity in blood of patients will show how common the disease is and will likely provide explanation to some other poorly understood disorders" Dr Andrey Zavialov said.

The discovery of the molecular basis of DADA2 has treatment implications. Since ADA2 circulates in the blood stream, the researches are evaluating a way to replace ADA2 that is missing in the bloodstreams of those affected by DADA2. For example, freshly frozen plasma from healthy donors could be used to restore ADA2 functionality for treated patients. The groups of Drs Anton and Andrey Zavialov will also work on developing artificial forms of the protein. "We have an excellent experience and wealth of structural information for engineering therapeutic ADA2" said Dr. Anton Zavialov, who recently determined an atomic resolution 3D structure of the protein.


Contact: Dr. Anton Zavialov
Academy of Finland

Page: 1

Related biology news :

1. Tsetse fly genetic code sequenced
2. Genetic legacy of rare dwarf trees is widespread
3. Autism Genome Project delivers genetic discovery
4. Genetic code of the deadly tsetse fly unraveled
5. Genetics risk, prenatal smoking may predict behavioral problems
6. Genetic study tackles mystery of slow plant domestications
7. New technique will accelerate genetic characterization of photosynthesis
8. Genetic pre-disposition toward exercise and mental development may be linked
9. Genetically modified tobacco plants as an alternative for producing bioethanol
10. Yeast provides genetic clues on drug response
11. Identified epigenetic factors associated with an increased risk of developing cancer
Post Your Comments:
(Date:5/3/2016)... , May 3, 2016  Neurotechnology, a provider ... MegaMatcher Automated Biometric Identification System (ABIS) , ... multi-biometric projects. MegaMatcher ABIS can process multiple complex ... any combination of fingerprint, face or iris biometrics. ... SDK and MegaMatcher Accelerator , which ...
(Date:4/26/2016)... and LONDON , April 26, ... of EdgeVerve Systems, a product subsidiary of Infosys ... announced a partnership to integrate the Onegini mobile ...      (Logo: ) ... customers enhanced security to access and transact across ...
(Date:4/15/2016)... April 15, 2016  A new partnership announced ... accurate underwriting decisions in a fraction of the ... priced and high-value life insurance policies to consumers ... With Force Diagnostics, rapid testing (A1C, Cotinine ... readings (blood pressure, weight, pulse, BMI, and activity ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... ... June 27, 2016 , ... Parallel 6 , the leading software as ... Clinical Reach Virtual Patient Encounter CONSULT module which enables both audio and video ... trial team. , Using the CONSULT module, patients and physicians can schedule a face ...
(Date:6/27/2016)... , June 27, 2016   Ginkgo Bioworks ... to industrial engineering, was today awarded as one ... selection of the world,s most innovative companies. Ginkgo ... scale for the real world in the nutrition, ... engineers work directly with customers including Fortune 500 ...
(Date:6/24/2016)... ... ... Researchers at the Universita Politecnica delle Marche in Ancona combed medical journal ... Their findings are the subject of a new article on the Surviving Mesothelioma website. ... the blood, lung fluid or tissue of mesothelioma patients that can help point doctors ...
(Date:6/23/2016)... - FACIT has announced the creation of a ... Propellon Therapeutics Inc. ("Propellon" or "the Company"), to ... of first-in-class WDR5 inhibitors for the treatment of ... an exciting class of therapies, possessing the potential ... patients. Substantial advances have been achieved with the ...
Breaking Biology Technology: