Featured Research

from universities, journals, and other organizations

Researchers At Cedars-Sinai Medical Center And Baylor College Of Medicine Clone Gene Linked To Spinocerebellar Ataxia Type 10 And Epilepsy

Date:
October 2, 2000
Source:
Cedars-Sinai Medical Center
Summary:
According to a report to be released in the October 1 issue of Nature Genetics, researchers at Baylor College of Medicine (Houston, TX) and at Cedars-Sinai Medical Center (Los Angeles, CA) have identified the gene on chromosome 22 and the causative mutation that is linked to inherited diseases that lead to motor incoordination and epilepsy. Known as Spinocerebellar Ataxia Type 10 (SCA10), this finding is significant in that epilepsy is not typically associated with late-onset ataxias.

According to a report to be released in the October 1 issue of Nature Genetics, researchers at Baylor College of Medicine (Houston, TX) and at Cedars-Sinai Medical Center (Los Angeles, CA) have identified the gene on chromosome 22 and the causative mutation that is linked to inherited diseases that lead to motor incoordination and epilepsy. Known as Spinocerebellar Ataxia Type 10 (SCA10), this finding is significant in that epilepsy is not typically associated with late-onset ataxias.

Related Articles


Ataxia is an umbrella description of neurodegenerative disorders that cause such disabling symptoms as unsteadiness and an inability to coordinate muscle movements. More than 150,000 Americans suffer from ataxias.

METHODOLOGY: According to Stefan-M. Pulst, M.D., Director of the Division of Neurology at Cedars-Sinai Medical Center who holds the Carmen and Louis Warschaw Chair in Neurology, researchers in the two-and-one-half year study extracted DNA from blood samples of the participating members of five SCA10 families, then combed through the DNA sequences looking for DNA repeats on chromosome 22. At the same time, they focused on clinical data indicating that this type of ataxia tends to strike earlier and earlier in subsequent generations. In the SCA10 families studied, all of which were of Mexican ancestry, the researchers found that in all patients a DNA repeat of five bases was repeated hundreds of times more than in normal individuals. Further, they found an inverse correlation between the expansion size and the age of disease onset.

RAMIFICATIONS: Identification of this gene mutation, may lead to pre-symptomatic diagnoses, and earlier treatment. “Ultimately,” says Dr. Pulst, “there is the possibility that over the next decade, we may be able to identify ways to prevent the death of neurons and thus develop preventative measures for this type of disorder.”

LEAD INVESTIGATORS: Tetsuo Ashizawa, M.D., Professor of Neurology, Baylor College of Medicine Stefan-M. Pulst, M.D., Director of the Division of Neurology at Cedars-Sinai Medical Center; and holder of the Carmen and Louis Warschaw Chair in Neurology

FUNDING: Funding for this research was provided by the National Institutes of Health and by the National Ataxia Foundation.

OTHER: Researchers at Cedars-Sinai Medical Center have previously discovered and localized genes involved in neurodegenerative disorders. The September, 2000, issue of Nature Genetics published the results of a study in which the scientists analyzed biologic, chemical and genetic mechanisms in an attempt to discover how mutation in the SCA2 gene actually causes damaged nerve cells. Earlier, Dr. Pulst was one of the lead scientists in the 1996 discovery of the spinocerebellar ataxia type 2 (SCA2) gene. The teams of Drs. Pulst and Dr. Ashizawa had independently identified the location of the gene for SCA10 on chromosome 22 last year.

MEDIA CONTACT: For media interviews and additional information, please contact Anita Roark at 310-423-4767. E-mail: [email protected]


Story Source:

The above story is based on materials provided by Cedars-Sinai Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Cedars-Sinai Medical Center. "Researchers At Cedars-Sinai Medical Center And Baylor College Of Medicine Clone Gene Linked To Spinocerebellar Ataxia Type 10 And Epilepsy." ScienceDaily. ScienceDaily, 2 October 2000. <www.sciencedaily.com/releases/2000/09/000928220503.htm>.
Cedars-Sinai Medical Center. (2000, October 2). Researchers At Cedars-Sinai Medical Center And Baylor College Of Medicine Clone Gene Linked To Spinocerebellar Ataxia Type 10 And Epilepsy. ScienceDaily. Retrieved November 22, 2014 from www.sciencedaily.com/releases/2000/09/000928220503.htm
Cedars-Sinai Medical Center. "Researchers At Cedars-Sinai Medical Center And Baylor College Of Medicine Clone Gene Linked To Spinocerebellar Ataxia Type 10 And Epilepsy." ScienceDaily. www.sciencedaily.com/releases/2000/09/000928220503.htm (accessed November 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, November 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
Ebola: Life Without School in Guinea

Ebola: Life Without School in Guinea

AFP (Nov. 21, 2014) Following the closure of schools and universities in Guinea because of the Ebola virus, students look for temporary work or gather in makeshift classrooms to catch up on their syllabus. Duration: 02:14 Video provided by AFP
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