Featured Research

from universities, journals, and other organizations

Mutations in VCP gene implicated in a number of neurodegenerative diseases

Date:
March 14, 2013
Source:
University College London - UCL
Summary:
New research gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget’s Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS).

New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS).

Single mutations in one gene rarely cause such different diseases. This study shows that these mutations disrupt energy production in cells shedding new light on the role of VCP in these multiple disorders.

In healthy cells VCP helps remove damaged mitochondria, the energy-producing engines of cells. The mutant protein can't do this and as a result, the dysfunctional mitochondria build up.

The new study led by Dr Fernando Bartolome, Dr Helene Plun-Favreau and Dr Andrey Abramov of the UCL Institute of Neurology, found that mitochondria are damaged in cells from patients with mutant VCP. Mitochondria generate a cell's energy, and the study found these damaged mitochondria are less efficient, burning more nutrients but producing less energy. This reduction in available energy makes cells more vulnerable, which could explain why mutations in the VCP gene lead to neurological disorders.

Lead author Dr Fernando Bartolome said "We have found that VCP mutations are associated with mitochondrial dysfunction. VCP had previously been shown to be important in the removal of damaged mitochondria and proteins, accumulation of which is potentially very toxic to cells. A single mutation in the VCP gene could cause multiple neurological diseases because a different type of protein is accumulating in each disorder."

In the study, the researchers used live imaging techniques to examine the functioning of mitochondria in patient cells carrying three independent VCP mutations, and in nerve cells in which the amount of VCP has been reduced.

"The next step will be to find small molecules able to correct the mitochondrial dysfunction in the VCP deficient cells," added Dr Bartolome .

Dr Brian Dickie, the Motor Neuron Disease Association's Director of Research Development says: "Neurons -- and motor neurons in particular -- are incredibly energy hungry cells. These new findings from the team at UCL show that there is a significant interruption of energy supply in this hereditary form of MND, which has strong implications for understanding the degenerative process underpinning all forms of the disease."

The research was supported in part by a Wellcome Trust/MRC Joint Call in Neurodegeneration award and by the Spanish Ministerio de Educación through the Fundación Española para la ciencia y la tecnología (FECYT) and grants from the ALS Association and Motor Neuron Disease (MND) Association.


Story Source:

The above story is based on materials provided by University College London - UCL. Note: Materials may be edited for content and length.


Journal Reference:

  1. Fernando Bartolome, Hsiu-Chuan Wu, Victoria S. Burchell, Elisavet Preza, Selina Wray, Colin J. Mahoney, Nick C. Fox, Andrea Calvo, Antonio Canosa, Cristina Moglia, Jessica Mandrioli, Adriano Chiò, Richard W. Orrell, Henry Houlden, John Hardy, Andrey Y. Abramov, Helene Plun-Favreau. Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron, 2013; DOI: 10.1016/j.neuron.2013.02.028

Cite This Page:

University College London - UCL. "Mutations in VCP gene implicated in a number of neurodegenerative diseases." ScienceDaily. ScienceDaily, 14 March 2013. <www.sciencedaily.com/releases/2013/03/130313214009.htm>.
University College London - UCL. (2013, March 14). Mutations in VCP gene implicated in a number of neurodegenerative diseases. ScienceDaily. Retrieved April 18, 2014 from www.sciencedaily.com/releases/2013/03/130313214009.htm
University College London - UCL. "Mutations in VCP gene implicated in a number of neurodegenerative diseases." ScienceDaily. www.sciencedaily.com/releases/2013/03/130313214009.htm (accessed April 18, 2014).

Share This



More Health & Medicine News

Friday, April 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) — The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) — President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) — A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) — A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins