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:4/23/2014)... Climate fiction, or simply cli-fi, is a newly coined term ... global warming. New research from University of Copenhagen shows how ... to simulate the potential consequences of climate change and imagine ... than scientific data on changes in the atmosphere; it is ... by the books we read and the films we see. ...
(Date:4/23/2014)... first cause of dementia and affects some 400,000 people ... been found. One of the reasons for this is ... cause alterations in nerve transmissions and the loss of ... from the Institute of Neuroscience at the Universitat Autnoma ... memory consolidation and were able to develop a gene ...
(Date:4/23/2014)... many social mammals, ravens form different types of social ... and they also form strict dominance relations. From a ... a key ability in daily social life ("knowing who ... group members have with each other sets the stage ... results of this study have been published in the ...
Breaking Biology News(10 mins):Fiction prepares us for a world changed by global warming 2Fiction prepares us for a world changed by global warming 3Loss of memory in Alzheimer's mice models reversed through gene therapy 2Ravens understand the relations among others 2
... Institute of Science and his colleagues caused a storm ... years back that tiny airborne particles, known as aerosols, ... change ?having, on a local scale, an even greater ... how these particles influence clouds have generated many uncertainties. ...
... sequencing of the chimpanzee genome last year, geneticists have spent ... closest evolutionary relative, looking for the differences that distinguish the ... human DNA sequence with the most dramatically increased rate of ... still unknown, but it appears to be directly involved in ...
... new study, published today in the current issue ... Sciences has significant implications for the design of ... in human biomedical research. The groundbreaking study, entitled, ... Quantum Dots", demonstrates that quantum dots can one ...
Cached Biology News:Tiny airborne particles are a major cause of climate change 2Tiny airborne particles are a major cause of climate change 3Researchers identify human DNA on the fast track 2Researchers identify human DNA on the fast track 3Connect the Quantum Dots 2
(Date:1/15/2014)... Vernon Hills, IL (PRWEB) January 15, 2014 ... Cole-Parmer to find hard-working items for the lab, from ... designated as Guaranteed-in-Stock (GIS)—ready to ship when you order. ... Masterflex® Peristaltic Pumps , from the L/S® model ...
(Date:1/15/2014)... California , January 15, 2014 Oxford ... today announced the appointment of Thomas C Reynolds MD, PhD ... years, development experience gained in the biotechnology industry, most recently ... am delighted to welcome Tom at this transformative time for ...
(Date:1/15/2014)... This webinar will focus on EMA and ... in biosimilars. , Regulatory frameworks are evolving many countries ... the complex nature of biopharmaceuticals makes the demonstration of ... challenging. Based on the specific aspects of biosimilar drug ...
(Date:1/15/2014)... TX (PRWEB) January 15, 2014 More ... disease, and about 1 in 3 seniors will die ... source ). These jaw-dropping figures have shocked many Americans ... and, hopefully, help prevent these tragic age-related cognitive disorders. ...
Breaking Biology Technology:Cole-Parmer Begins 2014 with the Release of Preferred Solutions 2Oxford BioTherapeutics Appoints Thomas C Reynolds MD, PhD to its Board of Directors 2Oxford BioTherapeutics Appoints Thomas C Reynolds MD, PhD to its Board of Directors 3Xtalks Life Sciences Webinar Examines Safety Assessment of Biosimilars 2Biohack Pure Offers 5 Tips for Increasing Memory in 2014 2
... Proteon Therapeutics,( http://www.proteontherapeutics.com ), a privately ... address the,medical needs of patients with kidney ... Annual Meeting of the American Society of ... Dilates Outflow,Veins in a Preclinical Model of ...
... Dr. Brad Thompson, President,and CEO of Oncolytics Biotech Inc. ... the Company at the Acumen BioFin Rodman & Renshaw ... 3:20 p.m. ET.,The event will be held at the ... live audio webcast of the presentation will be available ...
... agency to provide free home caregiving to disabled ... has announced its,2007 We Care For Veterans campaign ... services to qualified disabled veterans. (Logo: ... the nation are,donating 20 hours each of free ...
Cached Biology Technology:Proteon Therapeutics to Present at Annual Meeting of American Society of Nephrology in San Francisco on November 2, 2007 2Media Advisory - Oncolytics Biotech Inc. to Present at Acumen BioFin Rodman & Renshaw 9th Annual Healthcare Conference 2Homewatch CareGivers Launches 2007 We Care For Veterans Campaign 2