Navigation Links
Genetic disorder causing strokes and vascular inflammation in children has been discovered
Date:4/28/2014

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
anton.zavialov@utu.fi
Academy of Finland
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:10/17/2014)... German . ... in order to reproduce? And why are there two sexes ... latest issue of the research journal Molecular Human Reproduction ... Ramm from Bielefeld University Bielefeld has compiled this special issue ... a female to copulate with several males in quick succession ...
(Date:10/16/2014)... Virginia Institute of Marine Science have received a ... to identify the streams and wetlands most vulnerable ... help local governments and citizens conserve these important ... dataset of tidal-marsh observations first gathered by VIMS ... baseline can today,s researchers accurately map the slow ...
(Date:10/16/2014)... Syncytial Virus causes severe respiratory tract infections and ... year. Scientists at VIB and Ghent University have ... counteract this common virus infection. , Xavier ... that paves the way for the development of ... virus that causes suffering in numerous small children ...
Breaking Biology News(10 mins):Sperm wars 2EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3New perspectives for development of an RSV vaccine 2
... University professor of physics and astronomy Apparao Rao has ... Fellows are elected by their peers for outstanding contributions ... one half of 1 percent of the membership. ... nanotubes and for elucidating the properties of carbon nanotubes ...
... PITTSBURGHUniversity of Pittsburgh researchers have developed the first ... finding that could help diminish the environmental and ... of the super-strong materials commonly used in products, ... team has found that carbon nanotubes deteriorate when ...
... 16, 2008) Researchers from Virginia Commonwealth University have identified ... and suppress a key protein that is overexpressed in 90 ... to an effective gene therapy for cancer. According ... the Department of Human and Molecular Genetics and director of ...
Cached Biology News:Pitt researchers create non-toxic clean-up method for potentially toxic nano materials 2Researchers identify new anti-tumor gene 2
(Date:10/19/2014)... 19, 2014 The report "Unmanned ... Homeland Security), Technology, Payload, Type & by Geography ... the global unmanned ground vehicle market into various ... of market sizes. The report also identifies the ... impacting it along with the adoption trends. , ...
(Date:10/18/2014)... The Asian arthroscopic devices report defines and segments the ... revenue. The arthroscopic devices market in Asia is estimated ... CAGR of 6.5% from 2013 to 2018. , Browse ... to get an idea of the in-depth analysis provided. ... arthroscopic devices market in the same region, and is ...
(Date:10/18/2014)... According to a new market research report ... Global Trends & Forecasts up till 2017”, hydraulic fracturing ... This value is expected to increase from $40 billion ... CAGR during the same period. North America is expected ... terms of hydraulic horse power supplied by the year ...
(Date:10/17/2014)... and HILDEN, Germany ...   , Translational research in cancer ... being presented at the American Society of Human ... 250,000-plus DNA samples linked to Ingenuity ®  Knowledge ... for genomic analysis  Ingenuity ®  Variant ...
Breaking Biology Technology:Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 2Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 3Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 4Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 5The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 2The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 3The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 4Hydraulic Fracturing Market Projected To Reach $64 Billion by 2017 - New Report by MarketsandMarkets 2Hydraulic Fracturing Market Projected To Reach $64 Billion by 2017 - New Report by MarketsandMarkets 3Hydraulic Fracturing Market Projected To Reach $64 Billion by 2017 - New Report by MarketsandMarkets 4QIAGEN Demonstrates Expanded Bioinformatics Workflows at ASHG; Strong Market Adoption as Researchers Analyze Genomic Data on More Than a Quarter-Million Samples in Secure Private Cloud 2QIAGEN Demonstrates Expanded Bioinformatics Workflows at ASHG; Strong Market Adoption as Researchers Analyze Genomic Data on More Than a Quarter-Million Samples in Secure Private Cloud 3QIAGEN Demonstrates Expanded Bioinformatics Workflows at ASHG; Strong Market Adoption as Researchers Analyze Genomic Data on More Than a Quarter-Million Samples in Secure Private Cloud 4QIAGEN Demonstrates Expanded Bioinformatics Workflows at ASHG; Strong Market Adoption as Researchers Analyze Genomic Data on More Than a Quarter-Million Samples in Secure Private Cloud 5QIAGEN Demonstrates Expanded Bioinformatics Workflows at ASHG; Strong Market Adoption as Researchers Analyze Genomic Data on More Than a Quarter-Million Samples in Secure Private Cloud 6
... 14 IDS is pleased to announce,that their new, ... the specific assessment of type I collagen levels in ... is the first commercial EIA to allow the,specific assessment ... use,of this assay will aid the assessment of new ...
... N.J., Jan. 11 Genta,Incorporated (Nasdaq: GNTA ... from the Listing Qualifications Staff of The NASDAQ ... the stockholders, equity,requirement set forth in NASDAQ Marketplace ... delisting from The NASDAQ Global Market unless,the Company ...
... 11 Barr Pharmaceuticals,Inc. (NYSE: BRL ) ... initiated a challenge of the patent listed by ... tablets, 5mg and 10mg., Barr filed its ... certification for a generic Namenda product with the ...
Cached Biology Technology:A New, Unique and Unrivalled Rat/Mouse PINP Assay for Pharmaceutical, Clinical and Academic Research Organizations. 2Genta Receives Notice of Non-Compliance With NASDAQ Rule 2Genta Receives Notice of Non-Compliance With NASDAQ Rule 3Barr Confirms Patent Challenge of Namenda(R) Tablets, 5mg & 10mg 2Barr Confirms Patent Challenge of Namenda(R) Tablets, 5mg & 10mg 3
... Provides a fast and easy method ... mitochondrial fraction from mammalian tissues. Most ... inner and outer membranes. The kit ... studies and proteome profiling. Also included ...
Sufficient reagents for 50 applications.Mitochondria Isolation Kit Reagent A, 50 ml Mitochondria Isolation Kit Reagent B, 500 l Mitochondria Isolation Kit Reagent C, 70 ml...
...
... stirrers deliver accurate and repeatable ... away from internal components. The ... which allow users to dial-in ... feature a chemical resistant, reflective ...
Biology Products: