Featured Research

from universities, journals, and other organizations

'Dark genome' is involved in Rett Syndrome

Date:
May 2, 2013
Source:
IDIBELL-Bellvitge Biomedical Research Institute
Summary:
Researchers have described alterations in noncoding long chain RNA sequences in Rett syndrome.

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA sequences (lncRNA) in Rett syndrome.

Related Articles


These molecules act as supervisor agents responsible of 'switch on' or 'switch off' other genes in our genome that regulate the activity of neurons. The work has been published in the last issue of the journal RNA Biology.

Dark genome

Only 5% of our genetic material are genes that encode proteins. The remaining 95% is known as dark genome or non-coding DNA and its function is still unknown. Part of this DNA produces RNA molecules called noncoding long chain RNA (lncRNAs).

Rett Syndrome

Rett syndrome is a neurodevelopmental disease and it is the second most common cause of mental retardation in females after Down syndrome. Clinical symptoms occur between 6 and 18 months after birth and consist of a loss of cognitive, social and motor capacities accompanied by autistic behaviors, eg, stereotypic hand movements.

Today there is no effective treatment of the disease but the control of their symptoms. The syndrome is usually due to the presence of a mutation in MeCP2 epigenetic gene that, as a magnet, regulates the expression of many other genes of the cell.

Esteller's team works with a mouse model that faithfully reproduces the characteristics of the human Rett syndrome. In this study, researchers compared the expression of long chains of RNA in healthy and diseased animals and found that the presence of mutations in the Mecp2 gene causes alterations in the activity of lncRNA.

One such altered lncARN regulates the function of a key neurotransmitter in the nervous system in all vertebrates brain (GABA receptor). "Its alteration," says Esteller, "could explain the defects of communication between neurons in girls affected by Rett Syndrome."

According to Manel Esteller "this finding, in addition to increasing knowledge about the causes of the disease, could open the door to new therapeutic strategies that target lncRNA molecules or GABA receptor."

The study was supported by the Department of Health of the Generalitat de Catalunya, the Catalan Institute of Advanced Studies (ICREA), the Spanish Ministry of Health (E-RARE), the European Project EPINORC DISCHROM and the Fondation Lejeune (France) and the Catalan Association Rett Syndrome.


Story Source:

The above story is based on materials provided by IDIBELL-Bellvitge Biomedical Research Institute. Note: Materials may be edited for content and length.


Journal Reference:

  1. Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C. Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Esteller. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA Biology, Volume 10, Issue 7 [link]

Cite This Page:

IDIBELL-Bellvitge Biomedical Research Institute. "'Dark genome' is involved in Rett Syndrome." ScienceDaily. ScienceDaily, 2 May 2013. <www.sciencedaily.com/releases/2013/05/130502142653.htm>.
IDIBELL-Bellvitge Biomedical Research Institute. (2013, May 2). 'Dark genome' is involved in Rett Syndrome. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2013/05/130502142653.htm
IDIBELL-Bellvitge Biomedical Research Institute. "'Dark genome' is involved in Rett Syndrome." ScienceDaily. www.sciencedaily.com/releases/2013/05/130502142653.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 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
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
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

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