Navigation Links
In silico modeling helps predict severity of mitochondrial disease
Date:1/27/2008

A team of researchers in Australia, the United Kingdom and the United States has revealed how mitochondrial diseases are passed from the mother to the next generation in a mouse model system. The study, which was published on-line in Nature Genetics*, shows for the first time how mitochondrial diseases that cause muscle weakness, diabetes, stroke, heart failure and epilepsy are passed from mother to offspring.

Mitochondria are the engines present in each cell that produce adenosine triphosphate (ATP), the key energy currency that drives metabolism. Mitochondria also have their own DNA (mitochondrial or mtDNA) that encodes a small but essential number of proteins required for energy production in cells. Mitochondria, and the mtDNA that they contain, are inherited solely from the mother, as the paternal mtDNA present in the sperm are destroyed after the egg is fertilized. In almost all diseases caused by mutant mtDNA, the patients cells will contain a mixture of mutant and normal mtDNA. The proportion of mutant mtDNA in most cases determines the severity of the disease.

The inheritance of these diseases does not follow the rules of Mendelian genetics. Instead, there are large random shifts at the mtDNA mutation level between mother and offspring. This study explains how these large random shifts occur within the first three weeks of embryo formation, through the combined use of computational modeling and a mouse model system.

Dr. David Samuels, assistant professor at the Virginia Bioinformatics Institute (VBI), commented: The computational model used in this investigation simulates the biological process directly and allows scientists to examine the early stages of embryo formation and development. Clinicians can therefore take a close look at the replication of mitochondrial DNA and the dynamics of cell division in mouse embryos before and after implantation in the uterus. He added: Computational modeling and cutting-edge lab work were both essential for this study. The experiments gave us new information that we had to have to build the simulation, and the simulation was used as a tool to analyze the data from the experiment.

Dr. Patrick Chinnery, Wellcome Senior Fellow in Clinical Science and professor of neurogenetics at the University of Newcastle in the United Kingdom, remarked: Mitochondrial disease can have devastating effects on a family, and the chance of having affected children is a cause of major stress. By defining the main biological mechanism, we hope in the long term to develop counseling guidelines that will help patients and their families make more informed decisions.

The computational model reveals how mtDNA is divided into different embryonic cells before and after implantation and how the replicating mtDNA molecules are subsequently separated between the dividing germ cells that make up the embryo. The model accounts for the marked reduction in the number of mtDNA molecules that are transmitted from mother to offspring, the so-called mitochondrial genetic bottleneck. It is thought that this genetic bottleneck has evolved over time to remove deleterious mitochondrial mutations from the population. These mutations are either lost during transmission or, if transferred, give rise to offspring with a low chance of survival.

Although the current study investigates the transmission of mitochondrial DNA in mice, the computational model is also applicable to human data. Mitochondrial diseases are thought to affect as many as one person in 5000. The research offers the hope that clinicians will be able to predict a childs risk of developing maternally inherited mitochondrial diseases that cause muscle weakness, diabetes, stroke, heart failure and epilepsy.


'/>"/>

Contact: Barry Whyte
whyte@vbi.vt.edu
540-231-1767
Virginia Tech
Source:Eurekalert

Related medicine news :

1. The Health Trust Announces $30 Million Investment Towards Making Silicon Valley Healthiest Region in America
2. ASPS Studies Re-Evaluate Psychological Benefits and Health Concerns of Silicone Breast Implants
3. IBM reports milestone in silicon nanophotonics
4. Biggest Field Ever to Compete Nov. 4 for Fastest Company in Silicon Valley Title in the Comerica Corporate Challenge at The 2007 Metro Silicon Valley Marathon(R)
5. Lifespring Health Promotes Health and Fitness by Sponsoring Silicon Valley Marathon on November 3rd and 4th
6. Little Evidence Silicone Breast Implants Harm Health
7. Amedicas Silicon Nitride Ceramic Bearing Technology Receives Prestigious HAP Paul Award for Use in Total Hip Arthroplasty
8. Modeling Simulation Predicts Potential Negative Impact on U.S. Blood Supply if ESA Use Limited for Chemotherapy-Induced Anemia
9. Sixteen Organizations Implement ACG Rx-PM Predictive Modeling from Johns Hopkins University, DST Health Solutions
10. A classic method for modeling skin cancer is featured in Cold Spring Harbor Protocols
11. Chromatin remodeling complex connected to DNA damage control
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/2/2016)... California (PRWEB) , ... December 02, 2016 , ... Halfway ... Dental Medicine has provided preventative dental services to more than 15,900 children 5 years ... First 5 LA pledged $38 million over a span of five years to Western ...
(Date:12/2/2016)... ... 2016 , ... More than 100 business, civic, community and ... the UNCF Dothan-Wiregrass Mayor’s Luncheon Dec. 9, 2016. This inaugural event, hosted by ... support to UNCF-member institutions, including Miles College, Oakwood University, Tuskegee University, Stillman College ...
(Date:12/2/2016)... (PRWEB) , ... December 02, 2016 , ... U.S. Surgeon ... interview with Mediaplanet, Dr. Murthy explains how he was inspired to practice medicine at ... learned that medicine is about more than making diagnoses and prescribing medicine,” he states. ...
(Date:12/2/2016)... ... December 02, 2016 , ... Mediaplanet is proud ... Today, which covers the innovative treatments, therapeutic technologies, and revolutionized nutrition that are ... are prolonging life 6 years in the last 3 decades,” says Dr. Valentine ...
(Date:12/2/2016)... ... December 02, 2016 , ... Rijuven Corp launches rejiva ( http://www.rejiva.com ), a ... No other wearable health technology on the market can deliver all that rejiva can. ... meaningful insights about their health than the usual heart rate and steps taken”, adds ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... December 2, 2016 On Thursday, the ... the Dow Jones Industrial Average edged 0.36% higher, to finish ... 0.35%. Losses were broad based as six out of nine ... research reports on the following Services equities: Myriad Genetics Inc. ... QGEN ), INC Research Holdings Inc. (NASDAQ: INCR ...
(Date:12/2/2016)... 2016 The concept of rare diseases and the ... this sector has been taking shape in Europe ... aspects and initiatives related to orphan medicinal products have been ... of member states individually. Many member states in the EU ... of orphan medicinal products, the result of which took the ...
(Date:12/2/2016)... 1, 2016 Around the corners of world, ... each habitable land present over earth. Cancer has become ... in a life time this is because of the ... now. Given the steady increase in global cancer incidence ... spiraling healthcare costs of treatment, there is increasing interest ...
Breaking Medicine Technology: