Navigation Links
Gene scan finds link across array of childhood brain disorders
Date:8/22/2010

y (small brain and head), schizencephaly (fluid filled clefts in the brain), pachygyria (a cortex with thicker, fewer folds) and polymicrogyria (cortex with many small folds). These conditions reflect a failure of brain cells to grow and reach their proper places during development. They can result from prenatal exposure to alcohol, drugs and some viruses. In many cases, the cause is genetic, but the specific genetic lesion is often unknown.

Through whole exome sequencing, the new study found a single gene at the root of seemingly distinct types of MCD in children from multiple families. Rather than scanning a person's entire genome for mutations, this technique focuses on the protein-coding bits of DNA, or exome, which makes up about 1.5 percent of the genome.

Genetic forms of MCD occur worldwide and in all kinds of families, but the highest incidence is among children born to parents who are related. Dr. Gunel and his colleagues at Yale teamed up with investigators in Turkey to study Turkish families with MCD. The country has a tradition of first- and second-cousin marriages, and thus a relatively high incidence of MCD.

The study began by focusing on two related children who were diagnosed with microcephaly. Whole exome sequencing revealed that both children had mutations in a gene called WDR62. As the study grew to include children from other families with microcephaly, many of the children were found to have mutations in the same gene. Unexpectedly, brain imaging revealed that the children also tended to have other types of MCD, superimposed with microcephaly. In all, the investigators found 6 unique mutations in the WDR62 gene among 30 families.

Those results show that a single gene "is required for strikingly diverse aspects of human cortical brain development," said Dr. Gunel.

No one knows precisely what WDR62 does, but related proteins are known to regulate the processing of RNA (the intermediate between
'/>"/>

Contact: Daniel Stimson
stimsond@ninds.nih.gov
301-496-5751
NIH/National Institute of Neurological Disorders and Stroke
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Duke team finds compounds that prevent nerve damage
2. Study finds genetic variant plays role in cleft lip
3. In a last stronghold for endangered chimpanzees, survey finds drastic decline
4. Brown scientist finds coastal dead zones may benefit some species
5. Study finds high mortality of endangered loggerhead sea turtles in Baja California
6. Yale journal finds nanomaterials may have large environmental footprint
7. UCSB study finds physical strength, fighting ability revealed in human faces
8. NJIT professor finds engineering technique to identify disease-causing genes
9. Grapes may aid a bunch of heart risk factors, animal study finds
10. NC State finds new nanomaterial could be breakthrough for implantable medical devices
11. Pitt research finds that low concentrations of pesticides can become toxic mixture
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/22/2015)... 2015 Research and Markets ( http://www.researchandmarkets.com/research/wxdglm/global_wearable ... "Global Wearable Technologies Market and Applications, Opportunities, Industry ... Forecast 2014-2020" report to their offering. ... that can be worn on the user,s body ...
(Date:12/22/2014)... DUBLIN , Dec. 22, 2014 Research and ... the addition of the "The Global Watermarking ... http://photos.prnewswire.com/prnh/20130307/600769 ... global digital media watermarking and fingerprinting markets. Watermarking ...
(Date:12/19/2014)... 18, 2014   LaunchKey , the first decentralized mobile ... Internet of Things era, today announced the close of ... was led by Metamorphic Ventures with participation from ENIAC ... and others.  LaunchKey has raised $4 million to date, ...
Breaking Biology News(10 mins):Global Wearable Technologies Market and Applications, Opportunities, Industry Analysis, Segmentation, Size, Growth, Share, Overview, Trends and Forecast 2014-2020 2The Global Watermarking and Fingerprinting Markets 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 3
... History Survey have found that overall, concentrations of arsenic, selenium, ... Illinois River do not appear to be a health concern ... of the study have been published in the journal ... fillets was below the US Food and Drug Administration Action ...
... Hebrew university of Jerusalem have created a molecule that ... dementia or Alzheimer,s disease. Recent studies indicate that ... and non-diabetics are a risk factor for the development ... function. Diabetics have also been found to have twice ...
... in adulthood will be investigated as part of a major ... The 7.4 million programme, funded by the European Commission, ... eat and the types of food we choose. The ... eating habits develop and the influence of hunger, emotions, stress ...
Cached Biology News:Research shows arsenic, mercury and selenium in Asian carp not a health concern to most 2New molecule protects brain from detrimental effects linked to diabetes and high blood sugar 280 million SEK study seeks to explain what drives our appetites 2
(Date:1/22/2015)... Switzerland (PRWEB) January 22, 2015 Selexis ... characterized mammalian Research Cell Banks (RCBs) used for drug ... Research Cell Banks will include Next-Generation Sequencing ... genetic architecture de-risks biologic manufacturing by ensuring the integrity ...
(Date:1/22/2015)... 22, 2015   Cypher Genomics, Inc., the ... SQNM ), the leading molecular diagnostics ... generation noninvasive prenatal tests (NIPT). Through this agreement, ... Mantis™, to advance analysis of clinically-relevant fetal sub-chromosomal ...
(Date:1/22/2015)...  Derma Sciences, Inc. (Nasdaq: DSCI ), ... care, announces that AMNIOEXCEL® and AMNIOMATRIX®, amniotic allografts ... the Premier, Inc. Regenerative Skin Grafting contract portfolio. ... and AMNIOMATRIX® product lines, which continue to be ...
(Date:12/24/2014)... , Dec. 24, 2014 PlasmaTech Biopharmaceuticals, Inc. (NASDAQ: ... areas, announced the closing of an underwritten public offering of ... to an aggregate 3,500,000 shares of common stock, at an ... The warrants have a per share exercise price of $5.00, ...
Breaking Biology Technology:Selexis Generated Research Cell Banks Now Fully Sequenced Using Next-Generation Sequencing 2Cypher Genomics and Sequenom Announce Development Agreement 2Cypher Genomics and Sequenom Announce Development Agreement 3Cypher Genomics and Sequenom Announce Development Agreement 4Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 2Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 3Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 4Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 5PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 2PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 3
... Community...promotes entertainment everywhere on any device , ,MADISON, ... the sale of the companys desktop products group for ... transaction is now complete and Sony Pictures Digitals Executive ... keep the companys employee base in Madison and in ...
... become leader in alternative energy , ,Madison, WI ... purchase agreement with two developers that will build three ... produced in Wisconsin by 400%. , ,Under the agreement, ... Midwest Wind Energy, LLC, based in Chicago, will provide ...
... Build it, and they will come is an acceptable strategy ... diamond in an Iowa cornfield, but its not normally the ... team of partners in place, the La Crosse Health Science ... transfer Field of Dreams. , ,The $27 million, 168,000-square-foot center ...
Cached Biology Technology:Sony Completes Acquisition of Sonic Foundry 2Sony Completes Acquisition of Sonic Foundry 3WE Energies Is Not Letting Wind Power Blow Away 2La Crosse Health Science Center is an Evolving Example of Collaboration 2La Crosse Health Science Center is an Evolving Example of Collaboration 3
... be used with all 96-well ... stacking of covered plates ... with automated systems ... are available for use with ...
... Two sizes available for use with 96- or 384-well ... 96 for ease of location on 96-tube plates ... the skirt of the plate* Efficient sealing is ... in conjunction with screw or clip-down hot lid thermal ...
... reagent is intended for use as a wash ... Michels Transport Fluid is useful for transportation of ... for immunofluorescence studies. Samples may remain in ... room temperature. Michels Transport Fluid is not ...
... HistoMark Biotin Streptavidin-HRP Systems provide rapid, ... intracellular antigens in frozen or paraffin-embedded ... These systems also facilitate double or ... be performed simultaneously with primary antibodies ...
Biology Products: