Featured Research

from universities, journals, and other organizations

Gene mutation reveals new cause of rare neurological diseases

Date:
October 25, 2010
Source:
University of St George's London
Summary:
Scientists have discovered a new cause of spastic ataxia, and believe this cause is also a trigger for other mitochondrial diseases – neurological disorders that can lead to serious coordination, growth, visual, speech, and muscle defects.

Scientists have discovered a new cause of spastic ataxia, and believe this cause is also a trigger for other mitochondrial diseases -- neurological disorders that can lead to serious coordination, growth, visual, speech, and muscle defects.

Researchers at St George's, University of London have found a gene mutation mechanism that causes a new type of defect in mitochondria -- the parts of cells responsible for creating energy from food and oxygen. They made the discovery when they found a new gene that, when mutated by this mechanism, can cause spastic ataxia.

Although disorders resulting from mitochondrial abnormalities are well documented, this particular mutation mechanism -- an abnormality the researchers have named 'maturation defect of mitochondrial ribonucleic acid (RNA)' -- has not been seen before. RNA is the genetic material that transcribes instructions sent by DNA into actions, such as the production of protein in cells, needed for cell development.

The researchers found that the mitochondrial RNA of the affected gene has shortened chains of nucleotides, the molecules that make up RNA and DNA. These incomplete chains -- the maturation defect mechanism -- can result in the debilitating symptoms of spastic ataxia.

Mitochondrial diseases affect around one in every 11,000 adults, with a further one in 6,000 at risk of developing disease. They can be hard to identify as even diseases belonging to the same sub type can have entirely different symptoms.

Andrew Crosby, professor of medical genetics at St George's, University of London, who led the study, said: "Our findings define a new subclass of mitochondrial dysfunction and disease mechanism. This is an important discovery as there are other neurodegenerative disorders that may be caused by the same mechanism.

"This sheds light on an area of genetic disease that we still don't know very much about, and could help diagnose other disorders. But a lot more work is needed before any new treatments could be developed."

The findings of the study have been published in The American Journal of Human Genetics.

Prof Crosby and his team at St George's are involved in a long-term project investigating genetic disorders among the Amish communities in the USA. The latest study involved genetic analysis of an extended Amish family in which multiple children were affected by spastic ataxia.


Story Source:

The above story is based on materials provided by University of St George's London. Note: Materials may be edited for content and length.


Journal Reference:

  1. Andrew H. Crosby, Heema Patel, Barry A. Chioza, Christos Proukakis, Kay Gurtz, Michael A. Patton, Reza Sharifi, Gaurav Harlalka, Michael A. Simpson, Katherine Dick. Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia. The American Journal of Human Genetics, 2010; DOI: 10.1016/j.ajhg.2010.09.013

Cite This Page:

University of St George's London. "Gene mutation reveals new cause of rare neurological diseases." ScienceDaily. ScienceDaily, 25 October 2010. <www.sciencedaily.com/releases/2010/10/101022063526.htm>.
University of St George's London. (2010, October 25). Gene mutation reveals new cause of rare neurological diseases. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2010/10/101022063526.htm
University of St George's London. "Gene mutation reveals new cause of rare neurological diseases." ScienceDaily. www.sciencedaily.com/releases/2010/10/101022063526.htm (accessed October 1, 2014).

Share This



More Health & Medicine News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pregnancy Spacing Could Have Big Impact On Autism Risks

Pregnancy Spacing Could Have Big Impact On Autism Risks

Newsy (Oct. 1, 2014) A new study says children born less than one year and more than five years after a sibling can have an increased risk for autism. Video provided by Newsy
Powered by NewsLook.com
Robotic Hair Restoration

Robotic Hair Restoration

Ivanhoe (Oct. 1, 2014) A new robotic procedure is changing the way we transplant hair. The ARTAS robot leaves no linear scarring and provides more natural results. Video provided by Ivanhoe
Powered by NewsLook.com
Insertable Cardiac Monitor

Insertable Cardiac Monitor

Ivanhoe (Oct. 1, 2014) A heart monitor the size of a paperclip that can save your life. The “Reveal Linq” allows a doctor to monitor patients with A-Fib on a continuous basis for up to 3 years! Video provided by Ivanhoe
Powered by NewsLook.com
Attacking Superbugs

Attacking Superbugs

Ivanhoe (Oct. 1, 2014) Two weapons hospitals can use to attack superbugs. Scientists in Ireland created a new gel resistant to superbugs, and a robot that can disinfect a room in minutes. Video provided by Ivanhoe
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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