Navigation Links
Scientists find gene linked to congenital heart defect
Date:12/6/2010

their function. The groups found that the genes were specifically turned on in cells that produce motile cilia, important hair-like fibers that project from the surface of cells.

Burdine reasoned that zebrafish embryos with the mutated version of the gene also should possess some sort of defect in the cilia themselves. However, views of the cilia in zebrafish embryos through normal lab microscopes showed nothing beyond the ordinary.

For a closer look, Burdine employed a special transmission electron microscope. She examined the microscopic cilia in the zebrafish with the mutation in CCDC40 and compared those images with zebrafish with the normal gene. The cilia in the zebrafish with the mutations "were disrupted in their structure in a way I had never seen before," Burdine said.

She sent the images to Omran, who was treating people with a disorder known as primary ciliary dyskinesia or PCD. These patients suffer from a defect in the action of the cilia lining the respiratory tract. Normally, cilia beat rhythmically, moving mucus toward the throat. If cilia are impaired, however, they cannot reduce or remove mucus from the lungs, leaving people with the disorder susceptible to chronic recurrent respiratory infections, including bronchitis and pneumonia. Since motile cilia also are required for proper left-right patterning, these patients also often have defects in organ positioning.

Of the 26 patients with similar cilia structural defects tested by Omran, some 17 were found to have mutated versions of the gene CCDC40. In addition to the respiratory ciliary disorder, the patients also suffered from congenital heart defects. This finding provided evidence of a link between the cilia-induced respiratory disorder and the heart problems.

By knowing the gene and the properties conferred by its mutated version, scientists may be able to better treat those with the mutant gene and its accompanying respiratory disorders. Researc
'/>"/>

Contact: Kitta MacPherson
kittamac@princeton.edu
609-258-5729
Princeton University
Source:Eurekalert  

Page: 1 2 3 4

Related biology news :

1. Jefferson scientists deliver toxic genes to effectively kill pancreatic cancer cells
2. Scientists identify novel inhibitor of human microRNA
3. Argonne scientists peer into heart of compound that may detect chemical, biological weapons
4. MU scientists go green with gold, distribute environmentally friendly nanoparticles
5. Scientists identify gene that may contribute to improved rice yield
6. Scientists discover why a mothers high-fat diet contributes to obesity in her children
7. MU scientists see how HIV matures into an infection
8. Earth scientists keep an eye on Texas
9. Thinking it through: Scientists call for policy to guide biofuels industry toward sustainability
10. Scientists identify a molecule that coordinates the movement of cells
11. Scientists Find new migratory patterns for Mediterranean and Western Atlantic bluefin tuna
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists find gene linked to congenital heart defect
(Date:12/17/2014)... Markets ( http://www.researchandmarkets.com/research/9zq33j/global_chemical ) has announced the ... report to their offering. ... in this market is the increasing demand for medical ... of patient data for quick and correct diagnosis during ...
(Date:12/11/2014)... Markets , http://photos.prnewswire.com/prnh/20130307/600769 ... addition of the "Biometrics Market in India 2015-2019" ... major trend emerging in this market is the adoption ... than one characteristic of an individual for verification and ...
(Date:12/10/2014)... , Dec. 9, 2014  Valencell, a leader in ... seeing a staggering demand from its licensees for highly ... revealed, is not solely coming from fitness and health ... "A wearable is only as useful as ...
Breaking Biology News(10 mins):Global Chemical Sensor Market 2015-2019: Key Vendors are Abbott Laboratories, Bayer, Hoffmann La-Roche, Johnson & Johnson, NGK Spark Plugs and Robert Bosch 2Biometrics Market in India 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2Wearable Technology Products Demand Highly Accurate Biometric Technology 2
... Accounts of the tsunami that killed over a quarter of ... December, 2004, slowly disappear from the media, but the event ... are directly involved. In the aftermath of the disaster, academics ... of casualties could have been reduced and, more important, how ...
... to reduce the risk of stomach ulcers in people taking ... miscarriage, according to a study by researchers at the National ... Institutes of Health and other research institutions. , The study ... Medicine. , The drug, misoprostol, has been used to reduce ...
... –?from a search of 58,000 compounds –?that appear to ... of the three molecules protects the protein called "tau," ... with Alzheimer's. The finding is promising news for the ... co-director of the Neuroscience Research Institute at the University ...
Cached Biology News:Stem Cells to Solve the Blood Shortage Problem? 2Sleeping Sickness Epidemic Spreading in Uganda 2Sleeping Sickness Epidemic Spreading in Uganda 3Sleeping Sickness Epidemic Spreading in Uganda 4Scientists discover that three molecules may be developed into new Alzheimer's drugs 2Scientists discover that three molecules may be developed into new Alzheimer's drugs 3
(Date:1/22/2015)... 22, 2015 Protocol Networks brings independent ... team of brand-neutral, independent consultants, Protocol Networks has recently ... that over the years, his company has attracted several ... of Plainfield, as well as others. With the success ...
(Date:1/22/2015)... (PRWEB) January 22, 2015 Dr. Greg Leyer ... 12th annual Scripps Natural Supplements Pre-Conference seminar on probiotics in ... is an annual continuing education conference for health care professionals. ... included the topic of probiotics in health. Dr. Leyer spoke ...
(Date:1/22/2015)... Nueva Jersey , 22 de enero de 2015  El ... abre hoy su llamada a nominaciones para 2015. Este ... ha hecho, o tiene el potencial para hacer, contribuciones ... nominaciones se aceptarán hasta el 15 de marzo de ...
(Date:1/22/2015)... 22, 2015  Derma Sciences, Inc. (Nasdaq: ... advanced wound care, announces that AMNIOEXCEL® and AMNIOMATRIX®, ... added to the Premier, Inc. Regenerative Skin Grafting ... the AMNIOEXCEL® and AMNIOMATRIX® product lines, which continue ...
Breaking Biology Technology:Protocol Networks Brings Independent Technology Consulting to the Constitution State 2El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 2El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 3El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 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 5
... City, Mo. - The rate of entrepreneurial activity ... year-to-year shifts in gender, demographic, geographic and ethnic make-up ... according to a national assessment of entrepreneurial activity by ... Kauffman Index of Entrepreneurial Activity also reported a decline ...
... Memorial Day holiday is a paradox. It honors those who ... flags at gravestones and taps in the air, it is ... summer season and with sparkling weather framing joyous graduates, family ... the holiday holds its own festive note as well. I ...
... note: This is the 11th in a series of articles ... , , Madison, Wis. - You've ... equity funds, perhaps through investors. If you still need additional ... point, there are basic financial principles to consider. , ...
Cached Biology Technology:Kauffman study shows consistent entrepreneurial growth 2Who is minding the Innovation Gap? 2Who is minding the Innovation Gap? 3Who is minding the Innovation Gap? 4Who is minding the Innovation Gap? 5Who is minding the Innovation Gap? 6Who is minding the Innovation Gap? 7Who is minding the Innovation Gap? 8Early Stage: Step 11 - Other forms of finance 2Early Stage: Step 11 - Other forms of finance 3Early Stage: Step 11 - Other forms of finance 4
Anti-Mouse C-10, Biotin (Polyclonal) (rabbit IgG)...
Goat polyclonal to SART3 ( Abpromise for all tested applications). Antigen: Synthetic peptide: MSNADFAKLFLRK, corresponding to C terminal amino acids 951-963 of Human SART3 Entrez Gene ID: 9...
... Antibody is used to detect the appearance ... of infected cells as early as 8-24 ... the FastPlax Titer Kit, which allows determination ... The FastPlax Antibody can also ...
Alexa Fluor 647 anti-mouse IL-12 (Interleukin-12) / IL-23 (Interleukin-23) p40 25 ug...
Biology Products: