Navigation Links
New potential therapeutic target discovered for genetic disorder -- Barth syndrome
Date:3/2/2009

Researchers at NYU Langone Medical Center may have discovered a new targeted intervention for Barth Syndrome (BTHS). BTHS, a sometimes fatal disease, is a serious genetic disorder occurring predominantly in males that leads to infection or heart failure in childhood. The new study entitled, "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome", was recently published in the Proceedings of the National Academy of Sciences, shows the benefits of targeted intervention with an iPLA2-VIA inhibitor that prevents a major symptom of the disease- cardiolipin deficiency.

"Our research has established a causal role of cardiolipin deficiency in the pathogenesis of Barth syndrome and identified an important enzyme in cardiolipin degradation called iPLA2-VIA as a potential target for therapeutic intervention of the disease," said Mindong Ren, Ph.D., lead investigator of the study and assistant professor of cell biology at NYU Langone Medical Center.

BTHS syndrome is an X-linked genetic cardioskeletal muscle disease resulting in muscle weakness and fatigue in patients. The debilitating disorder is caused by a mutation in the genetic coding of tafazzin, an enzyme of the cardiolipin pathway. Cardiolipin is an essential lipid in the inner membrane of mitochondria responsible for normal cell structure and energy production. BTHS patients exhibit defects in cardiolipin metabolism which help fight infections. The various symptoms of BTHS, in addition to cardiolipin deficiency, include cardiomyopathy (weakness in heart muscle), neutropenia (a reduction in neutrophils or white blood cells that fight bacterial infections), muscle weakness & fatigue (caused by cellular deficiency), growth delay, and increase of organic acids in urine.

In a previous study, NYU researchers documented the characteristics of a tafazzin-deficiency in a Drosophila (fruit fly) model of the disease, showing low and abnormal cardiolipin concent
'/>"/>

Contact: Lauren Woods
lauren.woods@nyumc.org
212-404-3753
NYU Langone Medical Center / New York University School of Medicine
Source:Eurekalert

Page: 1 2

Related biology news :

1. Plasminogen activator inhibitor type-1 -- a potential link between heart failure and diabetes
2. Tiny tool to control growing blood vessels opens new potential in tumor research
3. High CO2 boosts plant respiration, potentially affecting climate and crops
4. Potential new herpes therapy studied
5. Research finds new cause of ozone wheezing and potential treatments
6. LSUSHC researchers find potential new target for hypertension treatment
7. Genome sequence shows sorghums immense potential
8. Researchers identify potential new weapon in battle against HIV infection
9. Potential therapy for congenital muscular dystrophy
10. UC San Diego and Genentech scientists develop potentially disruptive antibody sequencing technology
11. Pitt researchers create non-toxic clean-up method for potentially toxic nano materials
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/17/2015)... , March 17, 2015 Emotient, ... analytics software, today announced general availability of ... service for the analysis of facial expressions. The ... advertising, media content, products and services. It delivers ... engagement and sentiment - as derived from facial ...
(Date:3/16/2015)... Between 16 and 20 ... innovations in biometric identification at the CeBIT exhibition ...      (Photo: http://photos.prnewswire.com/prnh/20150316/735333 ) , ... at the forefront: the company,s all new BiometricGate ... Germany . BiometricGate is the first ...
(Date:3/12/2015)... -- The mascots of the Atlantic Coast Conference spent ... Forest Baptist Medical Center. They stopped by as part ... Basketball Tournament. Young patients enjoyed bonding with their favorite ... Brenner Children,s Hospital is the pediatric arm ... hospital in northwest North Carolina ...
Breaking Biology News(10 mins):New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 2New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 3New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 4DERMALOG Presents its Latest Biometric Innovations at the Hannover CeBIT Exhibition, 16 - 20 March 2015 2DERMALOG Presents its Latest Biometric Innovations at the Hannover CeBIT Exhibition, 16 - 20 March 2015 3
... (PINK SHEETS: DLSC) announces the appointment of Randall ... McCormick replaces outgoing President Mr. Berge Heede who resigned for personal ... "resigning for personal reasons and to allow Mr. McCormick to take ... the current Treasurer, will maintain that responsibility as well. , ...
... Legal loopholes and insufficient law enforcement mean that ... market in Asia, says a new report from ... report also raises concerns that legal provisions governing ... illegal trade in wild-caught, highly-endangered Asian elephants from ...
... It,s common knowledge that a protective navy of ... least temporarily disturb the normal balance. But it,s unclear ... full array of "good bacteria" return promptly or remain ... mice, University of Michigan scientists have shown for the ...
Cached Biology News:delSECUR CORPORATION Announces Appointment of the Company's President & CEO 2Elephant-size loopholes sustain Thai ivory trade 2Antibiotics take toll on beneficial microbes in gut 2Antibiotics take toll on beneficial microbes in gut 3
(Date:3/26/2015)... WriteResult, a premier provider of ePRO technologies and ... of Public Health and New Haven Farms to capture ... project. The goal of the study was to evaluate ... access to fresh produce and nutrition education on food ... blood pressure, diabetes and weight gain. Patients completed an ...
(Date:3/25/2015)... 2015 The surging prevalence of ... fuelled social media growth, with over 50% of ... social networking. Insurance companies are making use of ... and promote a diversity of their services and ... exploiting social networking services as part of sales ...
(Date:3/25/2015)... London, UK (PRWEB) March 25, 2015 ... of natural ingredients in all forms of food nutrients, ... led to a substantial rise in demand for natural ... astaxanthin have started to ramp up their capacities to ... for both natural and synthetic source astaxanthin (used in ...
(Date:3/25/2015)... ST LOUIS and the HAGUE, ... publication of two-year results of LES Stimulation therapy for ... of the journal Surgery [ Surgery ... and efficacy of its minimally-invasive therapy. ... an average duration of 11 years and taking prescribed ...
Breaking Biology Technology:Yale and New Haven Farms Improving Patient Health with WriteResult's myPROpad™ 2Yale and New Haven Farms Improving Patient Health with WriteResult's myPROpad™ 3Social Media Role in Global Insurance Industry Examined by Timetric in New Market Research Report Published at MarketPublishers.com 2Social Media Role in Global Insurance Industry Examined by Timetric in New Market Research Report Published at MarketPublishers.com 3Global Astaxanthin Market to Reach Value of USD 1.1 billion by 2020, Expects Industry Experts in New Report Available at MarketPublishers.com 2EndoStim LES Stimulation therapy demonstrates long term safety and efficacy results in treating reflux patients 2EndoStim LES Stimulation therapy demonstrates long term safety and efficacy results in treating reflux patients 3
... With dimensions measuring billionths of a meter, nanoparticles are way ... is becoming possible for today,s scientists not only to see ... are arranged in three dimensions using a technique called nanocrystallography. ... as x-ray synchrotrons, are only available at a handful of ...
... 4, 2012  Andrew Technologies, LLC launched the HydraSolve™ ... Aesthetic Plastic Surgery (ASAPS) in Vancouver, BC. ASAPS ... surgeons focused on aesthetic body contouring and is ... (Photo: http://photos.prnewswire.com/prnh/20120504/NY98979 ) ...
...  The San Diego Chapter of the National Investor Relations ... Tips & Tactics for Establishing & Maintaining a Successful ... 2012 meeting. The panel of seasoned IR ... and share their unique perspectives on what makes an ...
Cached Biology Technology:New technique uses electrons to map nanoparticle atomic structures 2New technique uses electrons to map nanoparticle atomic structures 3New HydraSolve™ Lipoplasty System launched at American Society of Aesthetic Plastic Surgery Meeting 2New HydraSolve™ Lipoplasty System launched at American Society of Aesthetic Plastic Surgery Meeting 3New HydraSolve™ Lipoplasty System launched at American Society of Aesthetic Plastic Surgery Meeting 4NIRI San Diego May Meeting: Seasoned IROs Discuss "Tips & Tactics for Establishing and Maintaining A Successful Investor Relations Program" 2NIRI San Diego May Meeting: Seasoned IROs Discuss "Tips & Tactics for Establishing and Maintaining A Successful Investor Relations Program" 3
... Clear yellow solution. ... 0.01% thimerosal, and other ... filtered. Diluent formulated to ... peroxidase antibody conjugates at ...
... WinMelt software is used ... of any DNA sequence up ... in optimizing placement of primers ... detection by denaturing gradient gel ...
... and PowerPac basic power supply are used for ... agarose gels. The Mini-Sub cell GT cell includes ... a 7 x 7 cm UV-transparent gel tray ... 1.5 mm fixed-height combs (8- and 15-well). The ...
... cell and PowerPac basic power supply are used ... in agarose gels. The mini format cell includes ... and leveling bubble. The PowerPac basic power supply, ... V, 4-400 mA, and 75 W. Power cord ...
Biology Products: