Navigation Links
Genetic mutation causes familial susceptibility for degenerative brain disease
Date:1/6/2009

rch team to recommend that ANE linked to mutation of RANBP2 be designated as ANE1. They also recommended that ANE1 and mutation of RANBP2 be considered in the differential diagnoses of patients showing symptoms consistent with ANE.

In a missense gene mutation, a single portion of the gene's DNA is reconfigured so that certain amino acids which form the building blocks of proteins are replaced, one for another. This change can remove a protein's function or, theoretically, set off biological chain reactions that lead to disease.

In the case of RANBP2, researchers still need to find out if mutation causes disease susceptibility by disrupting the protein's primary functions or whether it triggers a new chain of biological events. They suspect the latter and plan in future research to investigate how the mutation may impact the function of mitochondria. Mitochondria are the specialized parts of the cell that control energy production.

Mutation of RANBP2 is not the only susceptibility gene for the disease, although researchers said it accounted for 75 percent of the cases of familial or recurrent cases in the current study, showing up in 12 of 16 families. The gene mutation in itself is insufficient to cause full-blown ANE1. Additional genetic and environmental factors such as the specific biological route the virus takes and a person's nutritional status may also be important considerations, the researchers said.

The study included nearly two hundred children and adults from 35 unrelated families, 50 of whom had confirmed episodes of ANE. Nineteen patients of European, Asian or African descent had isolated cases of ANE. None of the participants with isolated ANE, as well as over a thousand healthy control patients, carried the RANBP2 mutation. The rest of the participants came from 16 families of European descent affected by familial or recurrent forms of the disease.

In one family central to the current study, 16 fa
'/>"/>

Contact: Nick Miller
nicholas.miller@cchmc.org
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. New genetic markers for ulcerative colitis identified, researchers report in Nature Genetics
2. Genetic variation may lead to early cardiovascular disease
3. Scientists make strides toward defining genetic signature of Alzheimers disease
4. Safe new therapy for genetic heart disease
5. NIST guides genetic genealogy labs toward improved accuracy
6. Ancient African exodus mostly involved men, geneticists find
7. VCU survey: US public supports genetic research, testing and government spending on research
8. Attitudes towards assisted reproduction and preimplantation genetic diagnosis
9. MU researcher identifies possible genetic causes of borderline personality disorder
10. CSHL researchers map changing epigenetic modifications that enable transposons to run amok
11. Irritable bowel syndrome can have genetic causes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/19/2014)... 2014A new ovoid structure discovered in the Nakhla Martian ... variety of minerals, and shows evidence of undergoing a ... the permafrost and mixing of surface and subsurface fluids. ... analytical studies to determine the origin of this new ... ovoid formed, point to the most likely conclusion, and ...
(Date:8/19/2014)... in French . ... RISKS of physical activity in children,Today the Canadian Society ... of childhood physical activity and published their position and ... Metabolism ( APNM ). This position stand ... of risk of physical activity for children and suggests ...
(Date:8/19/2014)... Daylight was breaking over the central Pacific and ... about a dozen scientists strategized for the day ahead. ... to collect water samples around the southern Line Islands, ... gizmos and delicate machinery strewn throughout the 158-foot research ... research group to bring a DNA sequencer out into ...
Breaking Biology News(10 mins):Life on Mars? Implications of a newly discovered mineral-rich structure 2Taking a stand: Balancing the BENEFITS and RISKS of physical activity in children 2Taking a stand: Balancing the BENEFITS and RISKS of physical activity in children 3Sequencing at sea 2Sequencing at sea 3
... latch onto blood platelets rapidly create healthy clots and ... hour after injury, new research shows. "We knew ... now we know the bleeding is stopped in time ... professor of biomedical engineering at Case Western Reserve University ...
... polyclonal antibody that blocks follicle-stimulating hormone (FSH) in mice ... prevent or arrest osteoporosis than currently available treatments. ... to show that an injection of a polyclonal antipeptide ... and building bone, say researchers at the Mount Sinai ...
... supports the possibility that daily vitamin D supplementation can reduce ... that will appear in the journal Pediatrics and ... that vitamin D supplementation decreased the risk of respiratory infections ... at the start of the study. "Our randomized ...
Cached Biology News:Nanoparticles added to platelets double internal injury survival rate 2Dual action polyclonal antibody may offer more effective, safer protection against osteoporosis 2Vitamin D supplementation can decrease risk of respiratory infections in children 2Vitamin D supplementation can decrease risk of respiratory infections in children 3
(Date:8/18/2014)... -- According to the new research ... Wastewater Treatment and Industrial Wastewater Treatment), By Type ... Configuration (Internal/Submerged and External/Sidestream), and By Region-Trends & ... for membrane bioreactor systems is projected to reach ... of 15.28% between 2014 and 2019. ...
(Date:8/18/2014)... Fla. , Aug. 18, 2014 ... biotechnology company whose patented and proprietary technologies are ... other proteins for the bioenergy, bio-based chemical, biopharmaceutical ... has filed a Registration Statement on Form 10 ... "SEC"). Logo - http://photos.prnewswire.com/prnh/20110621/CL06708LOGO ...
(Date:8/18/2014)... 18. August 2014 Vier führende ... internationale klinische Studie auf, in der eine ... soll das Sehvermögen bei allen Entfernungen verbessern, ... möglicherweise keine Lese- oder Gleitsichtbrille mehr benötigen. ... FluidVision Accommodating Intraocular Lens (FluidVision ...
(Date:8/16/2014)... the Walmart Foundation to build a robotic small motors ... costs of goods, allowing those goods to be produced ... , The Walmart U.S. Manufacturing Innovation Grant was part ... seven research and development institutions at the 2014 U.S. ... between Walmart, the U.S. Conference of Mayors and the ...
Breaking Biology Technology:Membrane Bioreactor Systems Market Worth $2,927 Million by 2019 2Membrane Bioreactor Systems Market Worth $2,927 Million by 2019 3Dyadic International Files Form 10 Registration Statement 2Dyadic International Files Form 10 Registration Statement 3Dyadic International Files Form 10 Registration Statement 4Implantation einer revolutionären akkommodativen Linse bei Katarakt-Patienten in deutschen Augenzentren im Rahmen einer internationalen klinischen Studie 2Implantation einer revolutionären akkommodativen Linse bei Katarakt-Patienten in deutschen Augenzentren im Rahmen einer internationalen klinischen Studie 3Implantation einer revolutionären akkommodativen Linse bei Katarakt-Patienten in deutschen Augenzentren im Rahmen einer internationalen klinischen Studie 4UT Arlington receives Walmart, Walmart Foundation innovation grant 2UT Arlington receives Walmart, Walmart Foundation innovation grant 3
... Today GenVec, Inc. (NASDAQ: GNVC ) announced financial ... 2011.  For the year ended December 31, 2011, the Company ... share, compared with a net loss of $12.3 million, or ... GenVec ended the year with $26.4 million in cash, cash ...
... doubt that the United States will be the No. ... by the year 2020, according to a new national ... deep concerns among Americans about the country,s ability to ... before the next decade. "A lackluster investment in ...
... for someone outside of a specialist field to identify ... data can be bewildering. New research, published in BioMed ... , describes a method of social network analysis, similar ... scientific literature and news articles to identify opinion leaders ...
Cached Biology Technology:GenVec Reports Fourth Quarter and 2011 Year-End Financial Results 2GenVec Reports Fourth Quarter and 2011 Year-End Financial Results 3GenVec Reports Fourth Quarter and 2011 Year-End Financial Results 4GenVec Reports Fourth Quarter and 2011 Year-End Financial Results 5GenVec Reports Fourth Quarter and 2011 Year-End Financial Results 6More than half of Americans doubt US global leadership in 2020 2Social networking shortcut to finding medical experts 2
... Bruker Daltonics and Bruker BioSpins ... for metabolism studies, and analysis of ... ESI-TOF system, an optional Avance NMR ... acquisition, evaluation and statistical analysis for ...
... Tracker w/ OutputCumulates a score of movement counts, ... that it.can track up to 6 subjects at ... be triggered. Can outpt a sync pulse ... Can use animal location and timing information ...
... fermentation systems for cultivation of microorganisms and ... of bio-pharmaceutical products maximum performance and economy ... and cell fermentation 10 L 1,500 ... ,*Fully automated control system ,*High-quality ...
tracking dye in electrophoresis; free acid, C 19 H 10 BrO 5 S; MW: 669.96...
Biology Products: