Navigation Links
Researchers generate a mutant mouse model useful in the treatment of neuromuscular diseases
Date:1/29/2013

In three to six months of life, this genetic alteration in mice similar to that occurred in human causes a rapid degeneration in the lower limbs to death for cardiac arrest.

For the first time in the world, researchers at the Center for Biomedical Research of the University of Granada have created mice with a genetic mutation inducing a deficiency in the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. These mutant mice which lack the Coq9 gene will be "a valuable tool for the study and treatment of metabolic encephalopathies and neuromuscular diseases", the researchers state.

Coenzyme Q10 (CoQ10) is a molecule produced in body cells, which functions are crucial to cell metabolism. Their best-known function is their generating energy used by cells and their antioxidant activity. In human, defects in the biosynthetic route cause CoQ10 deficiency, resulting in a syndrome with very heterogeneous symptoms.

To better understand the pathological mechanisms of this disease and learn about the biosynthetic pathway of CoQ, the University of Granada researchers conducted a three-year study to generate mice with a mutation in a gene (Coq9) similar to that found in humans. This gene codifies a protein involved in CoQ biosynthesis.

Lower Limb Paralysis

Accordikng to professor Luis Carlos Lpez Garca the principal investigator of this study states, "mice with a Coq9 mutation develop a severe encephalomyopathy inducing neural death, astrogliosis and vacuolation of the brain. At three to six months, these mice undergo a rapid degeneration causing lower limp paralysis and death for cardiac arrest. In molecular terms, CoQ deficiency in mice impairs the mitochondrial mechanisms of bioenergy production in the brain, causing a severe bioenergetic deficiency and a slight increase in oxidative damage".

The CoQ9-deficient mutant mouse model generated at the University of Granada "is the first model of CoQ9-deficient mutant mice with mitochondrial encephalomyopathy created worldwide. Currently, there is not any therapy for neuromuscular diseases associated with CoQ10 deficiency, and this mutant model might be useful in the development of an effective therapy for such diseases. In addition, as CoQ10 is also used as a nutritional supplement and in the cosmetics industry, "the CoQ9-deficient mutant mouse model is very useful in the assessment of the effectiveness of nutritional supplements and cosmetics".

The results of this research study which received financial support from CEI BioTic Granad, the Spanish Ministry of Economy and Competitiveness, the Andalusian Regional Government and the Marie Curie program have been recently published in the prestigious journal Human Molecular Genetics. Researchers from the National Cardiovascular Research Center (CNIC) also participated in the study.


'/>"/>
Contact: Luis Carlos Lpez Garca
luisca@ugr.es
University of Granada
Source:Eurekalert  

Related biology news :

1. In breast cancer metastasis, researchers identify possible drug target
2. Clemson University researchers: What happens to peaches when the chill is gone?
3. Socially isolated rats are more vulnerable to addiction, report researchers
4. UT Dallas researchers awarded $4.3 million to create next-generation technologies
5. Vitamin D holds promise in battling a deadly breast cancer, Saint Louis University researchers say
6. Researchers analyse rock dissolving method of geoengineering
7. Researchers show how cells DNA repair machinery can destroy viruses
8. Researchers turn one form of neuron into another in the brain
9. UGA researchers invent new material for warm-white LEDs
10. RUB researchers find over active enzyme in failing hearts
11. Researchers attack HIVs final defenses before drug-resistant mutations emerge
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Researchers generate a mutant mouse model useful in the treatment of neuromuscular diseases
(Date:12/15/2016)... , Dec. 15, 2016   WaferGen Bio-systems, ... held genomics technology company, announced today that on December ... Qualifications Department of The Nasdaq Stock Market LLC which ... bid price of WaferGen,s common stock had been at ... WaferGen has regained compliance with Listing Rule 5550(a)(2) of ...
(Date:12/15/2016)... , Dec. 15, 2016  There is much ... doors or starting the engine. Continental will demonstrate the ... Las Vegas . Through the combination of ... and Entry) and biometric elements, the international technology company ... vehicle personalization and authentication. "The integration of ...
(Date:12/8/2016)... Market Research Future published a half cooked research report ... Security and Service Market is expected to grow over the CAGR ... Highlights: ... Mobile Biometric Security and Service Market is ... of authentication and security from unwanted cyber threats. The increasing use ...
Breaking Biology News(10 mins):
(Date:1/19/2017)... 19, 2017 Research and Markets has announced ... Biomolecules, Cancer Type, Application - Global Opportunity Analysis and Industry Forecast, ... ... global market is projected to reach $15,737 million by 2022 from ... to 2022. Omic technologies segment accounted for more ...
(Date:1/19/2017)... 19, 2017 /PRNewswire -- WuXi AppTec, a leading ... and technology platform, today announced that it has ... preclinical drug discovery contract research organization (CRO). After ... wholly-owned subsidiary of WuXi, and will continue to ... greater services. The acquisition will further strengthen WuXi,s ...
(Date:1/19/2017)... Berkeley, CA (PRWEB) , ... January 19, 2017 ... ... the delivery of product vigilance software to leading biopharmaceutical and medical device manufacturers ... Mail is a fully 21 CFR Part 11-compliant email client designed to provide ...
(Date:1/19/2017)... , Jan. 19, 2017 AquaBounty Technologies, ... on enhancing productivity in aquaculture and a majority-owned subsidiary ... that it has completed the listing of its common ... equity subscription from Intrexon. "AquaBounty,s listing on ... will broaden our exposure to the U.S. markets as ...
Breaking Biology Technology: