Navigation Links
Geneticist develops tool to identify genes important in disease, tailoring individual treatment
Date:5/1/2012

patient's sequence using a process called site-directed mutagenesis. Each gene differed from the others at a single DNA position. "So in each case among the 84, we know there is a patient who had this exact change, accompanied by mild to severe disease," Mayfield explains.

Next, the researchers transferred each of the variants into a yeast cell, yielding 84 yeast strains that differed at only a single place in the CBS gene. A control strain containing the fully functional major allele of the CBS gene was constructed for comparison.

"Once we put an allele into yeast we can conduct experiments to ask whether it's functional or not by growing the colonies, both in dishes and in liquid culture," the geneticist explains. A mildly mutated allele may allow yeast cells to grow normally, but severely mutated cells fail to grow at all. Many variants function somewhere in between. "When you know where two sequences differ, you can start to identify changes that affect biological function from those that don't," he says.

But "the really interesting and exciting part of this project is what we learned about treating the disease," Mayfield adds. Some homocystinuria patients respond to simple vitamin B6 supplementation, while others require severe dietary restriction to avoid disease symptoms. In a series of experiments with yeast in liquid culture, the researchers added different levels of supplemental vitamin B6 to the 84 disease alleles and found that 37 percent of the alleles were functional or could be rescued by vitamin B6. "In the clinic, then, you can expect the patients with these alleles to respond to B6 treatment," the geneticist explains.

"This method gives us information about allele function and is applicable to other disease genes. Metabolic diseases and proteins that need vitamin co-factors are amenable to similar studies. Our findings indicate clearly that sequences alone can't tell the full story. This is a first step in gaini
'/>"/>

Contact: Janet Lathrop
jlathrop@admin.umass.edu
413-545-0444
University of Massachusetts at Amherst
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. UC Riverside rice geneticist receives high honor from US Department of Agriculture
2. Powerful online tool for protein analysis provided pro bono by Stanford geneticist
3. Ancient African exodus mostly involved men, geneticists find
4. Is love at first sight real? Geneticists offer tantalizing clues
5. UC Riverside geneticist receives highest honor from Botanical Society of America
6. Geneticists coordinate action to fight against traffic in human beings
7. UBC geneticist reveals molecular view of key epigenetic regulator
8. UK geneticists shed light on flowering plants
9. Case Western Reserve geneticist receives prestigious NIH Directors Pioneer Award
10. Improving cotton the goal of $3.8 million grant to University of Texas at Austin plant geneticist
11. Four new psoriasis hotspots identified by U-M geneticists
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Geneticist develops tool to identify genes important in disease, tailoring individual treatment
(Date:8/28/2014)... America (ESA) is pleased to announce the selection of ... Society. Honorary Membership acknowledges those who have served ESA ... the affairs of the Society that has reached an ... the ESA Governing Board and then voted on by ... the Awards Ceremony at Entomology 2014, ESA,s Annual Meeting ...
(Date:8/28/2014)... German . ... to a striking pattern of blue stripes alternating with golden ... cells, and yellow cells emerge during growth in the skin ... mosaic to compose the characteristic colour pattern. ,While ... interact to form proper stripes, the embryonic origin of the ...
(Date:8/28/2014)... his collaborators have developed an online analytic tool that ... cells for biomedical investigation. CellNet is a free-use Internet ... cell engineering. Details of CellNet and its application to ... in the journal Cell . , "This free ... types of cell-based investigations and can potentially offer help ...
Breaking Biology News(10 mins):Fred Baxendale selected as Honorary Member of the Entomological Society of America 2How the zebrafish gets its stripes 2How the zebrafish gets its stripes 3New tool aids stem cell engineering for medical research 2
... DURHAM, N.H. New research by University of New ... is an effective tool for gauging exercise intensity, but ... assumed to other more objective tests. In a study ... associate professor of kinesiology Timothy Quinn and his former ...
... 13, 2011 AVT, Inc., (formerly Automated Vending ... revolutionize the vending and automated retailing industries by ... refills directly to consumers, 24-hours a day, without ... This breakthrough system uses advanced biometric ...
... role as an electric wire conveying an electrical signal. ... (synapse), various brain functions can occur. A neuron which ... many synapses located on those dendritic trees, and carries ... team of Associate Professor Kubota from The National Institute ...
Cached Biology News:New UNH data tests the exercise 'talk test' 2A 3-D reconstructed image of neural dendritic trees using the advanced electron microscope technology 2
(Date:8/28/2014)... “This kit has an improved extraction efficiency and provides users ... said Mark Tess, PhD, Mycotoxin Product Manager for Charm Sciences. ... USDA-GIPSA inspection agencies that have a need to detect aflatoxin ... a matter of minutes with nothing but our equipment and ... grain before accepting it, but they no longer have to ...
(Date:8/28/2014)... NEW YORK , Aug. ... announces that a new market ... its catalogue: Whole ... (Systems, Kits (Library Preparation, Target ... Technology (Sequencing by Synthesis), by ...
(Date:8/28/2014)... ATLANTA , Aug. 28, 2014   SunTrust ... of three industry veterans to its equity research ... "Our ongoing expansion in equity research demonstrates ... with unique insights to enhance their investment decision ... Equities at STRH.  "We continue to make significant ...
(Date:8/28/2014)... by a Florida State University research team has led ... temperature, emit white light, and convert photon energy directly ... a butterfly. , Biwu Ma, associate professor in the ... College of Engineering, created the molecule in a lab ... that his creation has many other unique capabilities. , ...
Breaking Biology Technology:Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 2Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 3Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 4Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 5Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 6Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 7Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 8Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 9Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 10Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 11Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 12Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 13SunTrust Robinson Humphrey Expands Equity Research in Healthcare and Energy 2SunTrust Robinson Humphrey Expands Equity Research in Healthcare and Energy 3Novel 'butterfly' molecule could build new sensors, photoenergy conversion devices 2
... 20 Signalife announced,today that it has received orders ... Fidelity 100 units thus far in its initial sales ... sales,orders resulting from its current efforts, shall announce such ... Signalife, Inc. is an award-winning life sciences company ...
... Sept. 20 Isis,Pharmaceuticals, Inc. (Nasdaq: ISIS ... Biosciences, Inc. (Ibis), has been awarded four new,government ... the detection,and identification of microbial threat agents for ... Department of Homeland Security,Science and Technology Directorate (DHS-S&T) ...
... ADVENTRX Pharmaceuticals,Inc. (Amex: ANX ), a ... product candidates for the treatment,of cancer and infectious ... executive officer, is scheduled to present at the ... 2007 at 8:00 a.m.,Eastern Time. The conference takes ...
Cached Biology Technology:Signalife Achieves $1.98 Million Sales Orders Thus Far 2Isis Announces $4.2 Million in Government Contracts Awarded to Its Ibis Subsidiary for Biodefense Applications Development 2Isis Announces $4.2 Million in Government Contracts Awarded to Its Ibis Subsidiary for Biodefense Applications Development 3Isis Announces $4.2 Million in Government Contracts Awarded to Its Ibis Subsidiary for Biodefense Applications Development 4ADVENTRX Pharmaceuticals to Present at the 2007 UBS Global Life Sciences Conference 2
... RQ1 RNase-Free DNase is a ... single-stranded or double-stranded DNA to produce ... for use in applications where maintaining ... RQ1 DNase is qualified for use ...
...
... Topo I, Wild Type ... 1 mM DTT, 200 µM EDTA, 20% glycerol, ... I (Topo I) is a monomeric protein of ... It catalyzes the relaxation of both positive and ...
RNase-Free DNase 50 l...
Biology Products: