Navigation Links
How mitochondrial gene defects impair respiration, other major life functions
Date:9/24/2009

Researchers are delving into abnormal gene function in mitochondria, structures within cells that power our lives. Mitochondria are the place where energy is generated from the most basic molecules of food. Because this function is essential to life, defects in mitochondria may affect a wide range of organ systems in humans and animals.

Some names of mitochondrial disorders are Leigh's disease, MELAS syndrome and complex I deficiency. These are often severe and progressive conditions that attack brain, muscles and numerous other parts of the body.

Mitochondrial diseases are individually very rare, but because hundreds of them exist, they collectively have a large impact, affecting at least 1 in 5,000 people, and perhaps more, who often remain undiagnosed. In addition to a wide array of diseases originating in the mitochondria itself, malfunctioning mitochondria also contribute to complex disorders like Parkinson's disease, Alzheimer's disease, epilepsy and diabetes, among others.

For such crucial biological actors, much remains unknown about exactly how mitochondria function. A new study, published Aug. 12 in the online journal PLoS One, sheds light on mitochondrial biology.

Using genetic engineering, researchers interrupted the activity of individual genes directly involved in the production of energy within mitochondria. "If we knock down the function of specific system components, what happens?" said study leader Marni J. Falk, M.D., who directs the Mitochondrial-Genetics Disease Clinic at The Children's Hospital of Philadelphia. "Our ultimate goal is to translate the knowledge into targeted therapies, that is, effective ways to intervene. But first we need to understand the underlying disease mechanisms."

Falk's team made use of a simple model organism often studied in biology, Caenorhabditis elegans, which is a small worm called a nematode. Because mitochondria arose very early in evolution and play such
'/>"/>

Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Large reservoir of mitochondrial DNA mutations identified in humans
2. Mitochondrial cholesterol makes response to chemotherapy difficult in hepatic cancer
3. Hebrew University develops novel approach for treating mitochondrial disorders
4. Mitochondrial dysfunction and redox signaling in atrial tachyarrhythmia
5. Zebrafish to shed light on human mitochondrial diseases
6. Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
7. Essential nutrient found in eggs may help lower risk of neural tube defects
8. Embryology study offers clues to birth defects
9. Folic acid to prevent congenital heart defects
10. Low levels of vitamin B12 may increase risk for neural tube defects
11. Case Western Reserve University uncovers genetic basis for some birth defects
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/23/2014)... MINNETONKA, Minn. , July 23, 2014 /PRNewswire/ ... technology company specializing in clinical study management systems, ... West , a proven life sciences industry executive ... named Chief Operating Officer (COO).  Clareece will be ... and sales growth, operational efficiency and quality product/service ...
(Date:7/23/2014)... hookworms and a protist called Blastocystis can be ... argues we should rethink our views of organisms that live ... co-author Julius Luke even ingested three developmental stages of a ... more than a year with the tapeworms, which might have ... now, he says he feels fine. , "I knew there ...
(Date:7/23/2014)... YORK, NY -- The New York Stem Cell Foundation ... to develop stem cell resources to investigate and explore ... Batten disease, a fatal illness affecting children. , NYSCF ... from skin samples of young people affected by juvenile ... cell lines are produced by artificially "turning back the ...
Breaking Biology News(10 mins):MedNet Appoints Clareece West As Chief Operating Officer 2Intestinal parasites are 'old friends,' researchers argue 2Intestinal parasites are 'old friends,' researchers argue 3NYSCF partners with Beyond Batten Disease Foundation to fight juvenile Batten disease 2NYSCF partners with Beyond Batten Disease Foundation to fight juvenile Batten disease 3
... in the United States will receive a diagnosis of breast ... cause of cancer-related death in women. Now a new test ... patient. "Our research shows that there is a subset ... at all, other than a lumpectomy," explains Philip Bernard, M.D., ...
... free, two-day colloquium begins February 12, 2009 with the ... originator of the modern theory of evolution of species ... foundation of all modern biology. The invited speakers provide ... and empirical research. As such, the symposium emphasizes how ...
... direct chemical modifications to specific sites on recombinant proteins ... pharmaceutical industry has been developed by Carolyn Bertozzi ... Lawrence Berkeley National Laboratory and the University of California ... diabetes, can be made in bacterial systems like ...
Cached Biology News:New test for breast cancer will help guide treatment choices 2Darwin's legacy in 21st century biology 2Tailor-made recombinant proteins in mammals 2Tailor-made recombinant proteins in mammals 3Tailor-made recombinant proteins in mammals 4
(Date:7/23/2014)... SAN ANTONIO , 23 de julio de ... ADBI (ADBI o la Compañía) ha anunciado hoy ... Akron (ABIA o el Instituto), ... de ADBI, un dispositivo de terapia de señal ...   El Instituto, que tiene una ...
(Date:7/23/2014)... , July 23, 2014 ... portfolio company of Trendlines Agtech , announced ... Israel,s leading agricultural thermoplastics ... Valentis,s technology combines nanocrystalline cellulose (NCC), ... waste, with additional nanoparticles to produce highly improved ...
(Date:7/23/2014)... , July 23, 2014 /PRNewswire/ - BioAmber Inc. ... company producing sustainable chemicals, today announced that the underwriters ... their option to purchase an additional 420,000 shares ... of $12.00 per share, less underwriting discounts and ... public offering of 2,800,000 shares of common stock, ...
(Date:7/23/2014)... Shire plc (LSE: SHP, ... biopharmaceutical company, and ArmaGen, a US privately held ... collaboration agreement for AGT-182, an investigational enzyme replacement ... the central nervous system (CNS) and somatic manifestations ... collaboration strengthens Shire,s rare disease pipeline of innovative ...
Breaking Biology Technology:ADB International Group Inc. anuncia una asociación con Austen BioInnovation Institute 2ADB International Group Inc. anuncia una asociación con Austen BioInnovation Institute 3ADB International Group Inc. anuncia una asociación con Austen BioInnovation Institute 4ADB International Group Inc. anuncia una asociación con Austen BioInnovation Institute 5ADB International Group Inc. anuncia una asociación con Austen BioInnovation Institute 6Valentis Nanotech Signs MOU to Integrate Technology in Thermoplastics Production 2BioAmber announces exercise in full of underwriters' option in connection with previously priced follow-on offering 2BioAmber announces exercise in full of underwriters' option in connection with previously priced follow-on offering 3Shire Enters Strategic Licensing and Collaboration Agreement With ArmaGen 2Shire Enters Strategic Licensing and Collaboration Agreement With ArmaGen 3Shire Enters Strategic Licensing and Collaboration Agreement With ArmaGen 4Shire Enters Strategic Licensing and Collaboration Agreement With ArmaGen 5
... Mass., March 11 Abt Associates announced it has ... United States Agency for International Development (USAID) to lead ... while protecting biodiversity in Mexico.Mexico is a member of ... 2000 mile border with the United States. USAID ...
... Pharma, Inc. (NYSE Alternext US: DDD) today reported financial ... 31, 2008. The Company will host a live ... (Eastern Daylight Time)."Last year was an important period for ... Ph.D., M.B.A. "Utilizing our unique CDT(R) platforms, we made ...
... State of Qatar to Introduce State-of-the-Art Treatments including ... the leading cancer centers in the Middle East ... Medical Systems (NYSE: VAR ) equipped ... Al Amal Hospital in Doha, Qatar, is replacing ...
Cached Biology Technology:USAID Selects Abt Associates to Lead Team in Strengthening Mexico Private Sector Competitiveness 2SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 2SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 3SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 4SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 5SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 6SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 7SCOLR Pharma, Inc. Reports Fourth Quarter 2008 Financial Results 8Leading Middle East Cancer Hospital Acquires Advanced Radiotherapy Capability from Varian Medical Systems 2Leading Middle East Cancer Hospital Acquires Advanced Radiotherapy Capability from Varian Medical Systems 3
... Phosphothioate (PTO) oligonucleotides: PTOs are ... the phosphate backbone is replaced by a ... against nuclease degradation. PTOs are available as ... are phosphothioates Oligonucleotides with thio-caps ...
The mini vertical flow workbench is designed to perform PCR protocols in a particle-free environment. The built-in UV light ensures the elimination of any nucleic acid to avoid cross-contamination....
... For microsatellite research, the 4300 System ... genotyping automation software available. SagaGT automates electrophoresis, ... band sizes, and allele scoring. ,Saga GT ... LI-COR. Saga 1.0 (Unix) was initially developed ...
MOUSE ANTI GTP BINDING PROTEIN...
Biology Products: