Featured Research

from universities, journals, and other organizations

New genetic cause of neurodegeneration discovered

Date:
May 3, 2011
Source:
Mayo Clinic
Summary:
Researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago.

Mayo Clinic researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago. The researchers say their study -- appearing in Nature Genetics -- has revealed a new neural pathway that may help understand a variety of similar conditions.

"We were able to do this now because of Next Generation genomic sequencing technology," says Christopher Klein, M.D., Mayo Clinic neurologist and lead author of the study. "We also had the invaluable help of our international collaborators who helped identify additional extended families with this condition, making the extensive genetic data available to us."

Called hereditary sensory and autonomic neuropathy type 1 (HSAN1) with dementia and hearing loss, its symptoms begin to appear in the young adult years -- 20 to 35 -- after which an individual's cognitive ability, hearing and ability to sense limbs deteriorate slowly. There is no treatment or cure. It was first identified and described by Peter Dyck, M.D., a senior Mayo neurologist and co-author of this current paper.

In addition to the original family studied by Dr. Dyck, Dr. Klein's team focused on DNA samples and data from three other family groups spanning the United States, Japan, the United Kingdom (U.K.) and Australia (the U.K. and Australian individuals are one family and the other U.S. family makes up the four). In addition to NextGen sequencing and subsequent bioinformatics studies, team members conducted intracellular and methylation studies. Ultimately, they discovered the mutations on the DNMT1 area cause misfolding of the enzyme, decreased enzyme activity and loss of chromatin binding. They also showed that even moderate alterations in methylation can disrupt normal neural functions, "suggesting that DNMT1 is part of a precise mechanism of dynamic regulation of the nervous system."

Because the condition worsens with age, the researchers say its effect is cumulative and epigenetic. That is, it directly alters the genome after birth.

While the findings offer no immediate treatment for the affected families, the discovery does provide a much greater understanding of how the disease functions, and directions for future research in neurodegeneration.

The study was funded by the National Institutes of Health and the Muscular Dystrophy Association. The collaborators include Maria-Victoria Botuyan, Ph.D.; Yanhong Wu; Christopher Ward M.B., Ch.B., Ph.D.; Julie Cunningham, Ph.D.; Glenn Smith, Ph.D.; Elizabeth Atkinson; Sumit Middha; William Litchy, M.D.; James Dyck, M.D.; Joseph Parisi, M.D.; Lisa Boardman, M.D.; Georges Mer, Ph.D.; David Smith, Ph.D.; and Peter Dyck, M.D., the Roy E. and Merle Meyer Professor of Neuroscience; all of Mayo Clinic; Garth Nicholson, M.B.B.S., Ph.D., University of Sydney; Simon Hammans, M.D., National Health Service Trust, Southampton, U.K.; Kaori Hojo, M.D., and Hiromitch Yamanishi, M.D., Harima Sanitorium, Japan; Adam Karpf, Ph.D., Roswell Park Cancer Institute, Buffalo, N.Y.; Douglas Wallace, Ph.D., and Mariella Simon, University of California, Irvine; Cecilie Lander, M.D., Queensland Health, Herston, Australia; and Benjamin Boes, Ph.D., Roche Applied Science Genomic Sequencing, Indianapolis.


Story Source:

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


Journal Reference:

  1. Christopher J Klein, Maria-Victoria Botuyan, Yanhong Wu, Christopher J Ward, Garth A Nicholson, Simon Hammans, Kaori Hojo, Hiromitch Yamanishi, Adam R Karpf, Douglas C Wallace, Mariella Simon, Cecilie Lander, Lisa A Boardman, Julie M Cunningham, Glenn E Smith, William J Litchy, Benjamin Boes, Elizabeth J Atkinson, Sumit Middha, P James B Dyck, Joseph E Parisi, Georges Mer, David I Smith, Peter J Dyck. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics, 2011; DOI: 10.1038/ng.830

Cite This Page:

Mayo Clinic. "New genetic cause of neurodegeneration discovered." ScienceDaily. ScienceDaily, 3 May 2011. <www.sciencedaily.com/releases/2011/05/110501183919.htm>.
Mayo Clinic. (2011, May 3). New genetic cause of neurodegeneration discovered. ScienceDaily. Retrieved August 1, 2014 from www.sciencedaily.com/releases/2011/05/110501183919.htm
Mayo Clinic. "New genetic cause of neurodegeneration discovered." ScienceDaily. www.sciencedaily.com/releases/2011/05/110501183919.htm (accessed August 1, 2014).

Share This




More Health & Medicine News

Friday, August 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Texas Quintuplets Head Home

Texas Quintuplets Head Home

Reuters - US Online Video (Aug. 1, 2014) After four months in the hospital, the first quintuplets to be born at Baylor University Medical Center head home. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Ebola Patient Coming to U.S. for Treatment

Ebola Patient Coming to U.S. for Treatment

Reuters - US Online Video (Aug. 1, 2014) A U.S. aid worker infected with Ebola while working in West Africa will be treated in a high security ward at Emory University in Atlanta. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Ebola Vaccine Might Be Coming, But Where's It Been?

Ebola Vaccine Might Be Coming, But Where's It Been?

Newsy (Aug. 1, 2014) Health officials are working to fast-track a vaccine — the West-African Ebola outbreak has killed more than 700. But why didn't we already have one? Video provided by Newsy
Powered by NewsLook.com
Study Links Certain Birth Control Pills To Breast Cancer

Study Links Certain Birth Control Pills To Breast Cancer

Newsy (Aug. 1, 2014) Previous studies have made the link between birth control and breast cancer, but the latest makes the link to high-estrogen oral contraceptives. 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