HOME >> BIOLOGY >> NEWS
Venn diagram tactics to vet complex disease

A whole range of human muscular and neuromuscular diseases are caused by mutations in the mitochondrial respiratory chain/oxidative phosphorylation system. The problem is that there are about 120 genes involved in this system, some that are found in the mitochondria, and thus inherited through the mother, and some that are found in the nucleus and are inherited from both the mother and the father. Between the number of genes involved and the variable inheritance patterns, identifying all the mutations that could cause disease is a daunting task. Now David Thorburn and colleagues, from Murdoch Childrens Research Institute, have developed a methodology that takes a "Venn Diagram" approach to efficiently pinpoint mutations in this system. They utilize this method to identify a new cause for a lethal neonatal disease. The strategy makes use of cell-fusion experiments where cells from different patients are fused and the authors ask whether the fused cells are no longer defective -- this means the cells can complement one another. If the fused cells complement each other, this means that the original cells had mutations in different genes.

The authors then carry out a second round of fusions, but in these cells, they have had the mitochondrial DNA removed. Here, if the fused cells are no longer defective, the mutation is in the patient's nuclear DNA. If the fusions remain defective, the causal mutation is likely to be in the mitochondrial DNA. This technique is a very rapid and powerful means to categorize the mutation type of cells from different patients. The authors effectively demonstrated the strength of this technique using cells from 10 different patients, and showed that 7 contained nuclear mutations and 1 contained a mitochondrial mutation. The authors then focused on two patients whose cells did not complement one another, meaning the same gene was mutated. From there they used a battery of mapping, microarray and bioinformatics analyses and identi
'"/>

Contact: Laurie Goodman
press_releases@the-jci.org
212-342-4159
Journal of Clinical Investigation
15-Sep-2004


Page: 1 2

Related biology news :

1. Researchers build diagram of cell cycle clock
2. Mouse gene trap helps decipher brains wiring diagram
3. UMass microbiology team probes bacteriums surprising survival tactics
4. Microbiology team probes bacteriums surprising survival tactics
5. Survival tactics in bacteria - environmental conditions fit for mankind
6. Adaptive changes in the genome may provide insight into the genetics of complex disease
7. Last of known genes identified in complex obesity syndrome
8. Biologists deciphering complex lemur scent language
9. Crystal structure for anthrax-cell binding complex
10. Yale scientists visualize molecular detail of RNA splicing complex
11. Temple virologist receives NIH grant to continue investigation of HIV dementia complex

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/23/2020)... ... June 23, 2020 , ... First ... Renovagen Ltd, a UK supplier and manufacturer of innovative portable renewable energy equipment, ... in the fight against the COVID-19 pandemic in Zambia. , One of Renovagen’s ...
(Date:6/23/2020)... ... , ... In its June 22 online post, business and technology news platform ... Ph.D., founder and director of stem cell biotechnology company Asymmetrex . Superb Crew ... starting July 5 it would begin offering free tissue stem cell counting ...
(Date:6/19/2020)... ... ... Join experts from Envigo Lauren Klaskala, Project Manager – Custom ... on Wednesday, July 8, 2020 at 11am EDT (4pm BST/UK). , Nuclease-based technologies such ... while modifying the genome may be more straightforward, the challenge to create an optimal ...
Breaking Biology News(10 mins):
(Date:7/7/2020)... ... July 06, 2020 , ... Bio-IT World ... Eli Lilly, Bristol-Myers Squibb, the University of Chicago, Massachusetts General Hospital, Mission: Cure, ... an elite awards program, highlighting outstanding examples of how technology innovations and strategic ...
(Date:6/28/2020)... ... June 25, 2020 , ... With the COVID-19 pandemic ... drug treatment. In an effort to better understand the cellular responses to COVID-19, ... imaging dataset portraying therapeutic compound effects from over 1,600 approved and referenced molecules ...
(Date:6/23/2020)... ... June 22, 2020 , ... Regen Suppliers, the one stop ... buy three, get the fourth unit free with no limit on the amniotic ... as exosomes, have been a game changer for regenerative therapies. The products are ...
(Date:6/11/2020)... BALTIMORE (PRWEB) , ... June 09, 2020 , ... ... completion of Phase I of a Small Business Innovation Research (SBIR) program funded ... the 21st Century: Rapid Toxin Detection in the Field”. The project’s goal was ...
Breaking Biology Technology:
Cached News: