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:3/30/2017)... March 30, 2017  On April 6-7, 2017, Sequencing.com ... Genome hackathon at Microsoft,s headquarters in ... will focus on developing health and wellness apps that ... Hack the Genome is the first hackathon for ... world,s largest companies in the genomics, tech and health ...
(Date:3/30/2017)... , March 30, 2017 Trends, opportunities ... (physiological and behavioral), by technology (fingerprint, AFIS, iris recognition, ... recognition, and others), by end use industry (government and ... immigration, financial and banking, and others), and by region ... , Asia Pacific , and ...
(Date:3/28/2017)... 28, 2017 The report "Video ... Monitors, Servers, Storage Devices), Software (Video Analytics, VMS), and ... Global Forecast to 2022", published by MarketsandMarkets, the market ... is projected to reach USD 75.64 Billion by 2022, ... The base year considered for the study is 2016 ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... ... ... At its national board meeting in North Carolina, ARCS® Foundation President ... and Astronomy, has been selected for membership in ARCS Alumni Hall of Fame ... Prize in Fundamental physics for the discovery of the accelerating expansion of the universe, ...
(Date:10/7/2017)... ... October 06, 2017 , ... With ... microscopy and surface analysis, Nanoscience Instruments is now expanding into Analytical Services. ... range of contract analysis services for advanced applications. Services will leverage techniques ...
(Date:10/6/2017)... ... October 06, 2017 , ... ... the healthcare and technology sector at their fourth annual Conference where founders, investors, ... inspiring speakers and the ELEVATE pitch competition showcasing early stage digital health and ...
(Date:10/5/2017)... ... ... Understanding the microbiome, the millions of bacteria that live in our guts, is ... the newest exhibit on display at the University City Science Center’s Esther Klein Gallery ... of the gut microbiome. , Gut Love opens October 12, 2017, and runs ...
Breaking Biology Technology: