Featured Research

from universities, journals, and other organizations

Important new familial motor neuron disease gene identified

Date:
September 22, 2011
Source:
Cardiff University
Summary:
Families suffering from a history of motor neuron disease have helped an international scientific team locate a new gene linked to the incurable disease. The team discovered the patients share a changed genetic segment on the short arm of chromosome 9. The new discovery will lead to new blood tests for families with a history of this condition.

Families suffering from a history of motor neuron disease have helped an international scientific team locate a new gene linked to the incurable disease. The team discovered the patients share a changed genetic segment on the short arm of chromosome 9. The new discovery will lead to new blood tests for families with a history of this condition.

The investigators studied a large group of Finnish patients and a family from Gwent, South Wales who have lost many relatives to early onset motor neuron disease (MND) and the neurodegenerative disease fronto-temporal dementia, also known as Pick's disease. The team, including scientists from Cardiff University, The University of Manchester and UCL (University College London), discovered that both the Gwent family and the Finnish patients share a changed genetic segment on the short arm of chromosome 9.

Five thousand people in the UK have MND, and well known sufferers have included David Niven and Don Revie. The disease has recently been diagnosed in the South African rugby player Joost van der Westhuizen. The disease is progressive and fatal, with an average survival from onset of symptoms between two and five years.

Motor neuron scientists have been studying chromosome 9 for some years but until now have not been able to pinpoint the gene that causes the disease. The new discovery identifies the critical gene change as an expanded sequence of DNA repeats. Unaffected people carry up to 20 DNA repeats in a gene called C9orf72 whereas affected patients with motor neuron disease may carry hundreds of repeats. The gene change affects a gene segment outside of the normal protein coding portion of the gene (affecting non-coding RNA).

The role of this DNA expansion is currently unknown but it probably disrupts multiple mechanisms in motor nerve cells (motor neurons), leading to their premature failure and motor neuron cell death. The new discovery will lead to new blood tests for families with a history of this condition, and, potentially, to new avenues for treating the incurable disease.

The genetic variation was difficult to identify because it lies outside the protein coding regions that are normally studied in human genetic work. Although this variation was identified first in Finnish and Welsh patients it appears to occur in many different populations and accounts for the disease in up to one third of patients with a family history of motor neuron disease.

The Motor Neurone Disease Association and the ALS (Amyotrophic Lateral Sclerosis) Association funded the study, together with the Medical Research Council and the Wellcome Trust.

Dr Huw Morris, based at the MRC Centre for Neuropsychiatric Genetics, Cardiff University and the Royal Gwent Hospital, said: "This work is the culmination of many years work by doctors and scientists studying this condition and it is due in large part to the courage and tenacity of many patients facing motor neuron disease, particularly the Gwent kindred and the Finnish cohort.

Although this work is the end of our long hunt for this gene, it is the beginning of our search for therapies based on this discovery that can stop this brutal disease in its tracks."

Professor John Hardy, based at the UCL Institute of Neurology, commented: "This is a very exciting finding which not only explains a significant proportion of motor neuron disease and frontal dementia but also puts RNA biology at the centre of the disease causation"

Professor Stuart Pickering-Brown, from The University of Manchester, added: "This is the most common genetic cause of motor neuron disease and frontotemporal dementia identified to date and opens up important new avenues of research."


Story Source:

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


Cite This Page:

Cardiff University. "Important new familial motor neuron disease gene identified." ScienceDaily. ScienceDaily, 22 September 2011. <www.sciencedaily.com/releases/2011/09/110921142027.htm>.
Cardiff University. (2011, September 22). Important new familial motor neuron disease gene identified. ScienceDaily. Retrieved September 16, 2014 from www.sciencedaily.com/releases/2011/09/110921142027.htm
Cardiff University. "Important new familial motor neuron disease gene identified." ScienceDaily. www.sciencedaily.com/releases/2011/09/110921142027.htm (accessed September 16, 2014).

Share This



More Health & Medicine News

Tuesday, September 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Man Floats for 31 Hours in Gulf Waters

Man Floats for 31 Hours in Gulf Waters

AP (Sep. 16, 2014) A Texas man is lucky to be alive after he and three others floated for more than a day in the Gulf of Mexico when their boat sank during a fishing trip. (Sept. 16) Video provided by AP
Powered by NewsLook.com
Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

AFP (Sep. 16, 2014) Since the arrival of Ebola in Ivory Coast, Ivorians have been abandoning their pets, particularly monkeys, in the fear that they may transmit the virus. Duration: 00:47 Video provided by AFP
Powered by NewsLook.com
Study Links Male-Pattern Baldness To Prostate Cancer

Study Links Male-Pattern Baldness To Prostate Cancer

Newsy (Sep. 16, 2014) New findings suggest men with a certain type of baldness at age 45 are 39 percent more likely to develop aggressive prostate cancer. 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