Navigation Links
Genetic mutations linked to Parkinson's disease
Date:8/11/2013

Researchers have discovered how genetic mutations linked to Parkinson's disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments.

In the new study, published in Nature Neuroscience, a team of researchers from UCL, the University of Cambridge and the University of Sheffield showed how defects in the Parkinson's gene Fbxo7 cause problems with 'mitaphagy' an essential process through which our bodies are able to get rid of damaged cells.

Mitochondria are the 'energy powerhouses' of cells. Their function is vital in nerve cells which require a great deal of energy in order to function and survive. Dysfunctional mitochondria are potentially very harmful and, normally, cells dispose of the damaged mitchondria by self-eating them, a process called mitophagy.

Most of what we know about the mitophagy process comes from the study of the familial forms of Parkinson's, one of the most common diseases of the brain. Over the last three years, two genes associated with familial Parkinson's disease, PINK1 and Parkin, have been reported to play a role in mitophagy.

This new study shows just how central the role of mitophagy is and how mutations in Fbxo7 are also linked with the disease and interfere with the PINK1-Parkin pathway. In people with Parkinson's, genetic mutations cause defects in mitophagy, leading to a build-up of dysfunctional mitochondria. This is likely to explain, at least partially, the death of brain cells in Parkinson's patients with these mutations.

One of the lead authors, Dr Helene Plun-Favreau from the UCL Institute of Neurology, said: "These findings suggest that treatment strategies that target mitophagy might be developed to benefit patients with Parkinson's disease in the future."

Dr Plun-Favreau, who was recently awarded a grant from the National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre, said: "What makes the study so robust is the confirmation of defective mitophagy in a number of different Parkinson's models, including cells of patients who carry a mutation in the Fbxo7 gene."

Co-author Dr Heike Laman, University of Cambridge, said: "This research focuses the attention of the PD community on the importance of the proper maintenance of mitochondria for the health of neurons. We are really only at the very beginning of this work, but perhaps we can use this information to enable earlier diagnosis for Parkinson's disease patients or design therapies aimed at supporting mitochondrial health."

Professor Nicholas Wood, Neuroscience programme director for the NIHR University College London Hospitals BRC, said: "It is very exciting to see how detailed biological work of this type can highlight a single pathway that contributes to Parkinson's disease. This presents the opportunity of more rationale drug design for many forms of parkinsonism."

Professor Hugh Perry, chair of the Neurosciences and Mental Health Board at the Medical Research Council who part-funded the study, said: "This study raises interesting questions about precisely how brain cells die in a Parkinson's patient: the process which is key to understanding the disease's progression. The more we understand about the basic molecular events which contribute to the onset and progression of Parkinson's disease, the better placed we will be to develop treatments to stop it in its tracks."


'/>"/>

Contact: David Weston
d.weston@ucl.ac.uk
44-020-310-83844
University College London
Source:Eurekalert

Related biology news :

1. Unraveling genetic networks
2. Discovered a genetic biomarker that detects Lewy body dementia
3. HudsonAlpha awarded grant to improve diagnoses of childhood genetic disorders
4. Genetic secrets of the worlds toughest little bird
5. BGI and Association of Czech genetic centers announce opening of a joint prenatal test facility
6. 23andMe and ALSPAC identify 16 new genetic associations for pollen, dust-mite and cat allergies
7. ACRG and BGI report new evidence for the genetic bases of liver cancer
8. Complex genetic architectures: Some common symptoms of trisomy 21
9. New research backs theory that genetic switches play big role in human evolution
10. CSHL geneticists solve mystery of EEC Syndromes variable severity in children
11. Albert Einstein College of Medicine hosts conference on Jewish genetic research
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/15/2016)... -- Research and Markets has announced the ...  report to their offering.  ,      ... gait biometrics market is expected to grow at ... Gait analysis generates multiple variables such ... compute factors that are not or cannot be ...
(Date:4/13/2016)... 2016  IMPOWER physicians supporting Medicaid patients in ... clinical standard in telehealth thanks to a new partnership ... platform, IMPOWER patients can routinely track key health measurements, ... index, and, when they opt in, share them with ... a local retail location at no cost. By leveraging ...
(Date:3/31/2016)... 2016  Genomics firm Nabsys has completed a financial ... Bready , M.D., who returned to the company in ... leadership team, including Chief Technology Officer, John Oliver ... Nurnberg and Vice President of Software and Informatics, ... Dr. Bready served as CEO of Nabsys from ...
Breaking Biology News(10 mins):
(Date:4/26/2016)... Francisco, CA (PRWEB) , ... April 26, 2016 , ... ... division for Adecco RPO, signing the first multi-million dollar, multi-year managed services contract in ... delighted to have Michael join our leadership team,” said John Younger, founder of Accolo. ...
(Date:4/26/2016)... ... ... BioFactura, Inc ., a biopharmaceutical research and manufacturing company, announced today the ... significant oversubscription of the original $1.5M target. The funds will be used to ... , Chief Executive Officer and President, Darryl Sampey founded BioFactura in 2004 ...
(Date:4/26/2016)... , VIENNA and ... The prize recognizes the ... resulting revolutionary innovations that will benefit patients and ... http://photos.prnewswire.com/prnh/20160210/331945LOGO ) , Norma ... proprietary trend setting products in the field of ...
(Date:4/26/2016)... ... April 26, 2016 , ... The Institute for Venture ... round of pre-proposal competition for scientific grants. , The IVS funds promising ideas ... the highest potential to replace paradigms that have outlived their usefulness. All areas ...
Breaking Biology Technology: