Featured Research

from universities, journals, and other organizations

New method for genome analysis identifies the genetic effect of a rare form of mental retardation

Date:
October 5, 2010
Source:
Max-Planck-Gesellschaft
Summary:
The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists have now succeeded in using a new process with which all of the genes in the human genome can be analysed simultaneously. The process was used for the first time on three children in a family who suffer from a rare form of mental retardation (Mabry Syndrome).

The DNA is strung along the chromosomes and contains our genes. With the aid of a special concentration procedure, the genes are separated from the remainder of the DNA and sequenced. The resulting sequences are analysed in terms of bioinformatics. This image shows a mutation from G to T (red).
Credit: Max Planck Institute for Molecular Genetics, Berlin

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment.

Related Articles


Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charité Universitätsmedizin -- Berlin have succeeded in using a new process with which all of the genes in the human genome can be analysed simultaneously. The process was used for the first time on three children in a family who suffer from a rare form of mental retardation (Mabry Syndrome). The analysis revealed a mutation in the PIGV gene that results in the inability of proteins, for example alkaline phosphatase, to anchor to the surface of cell membranes.

The results, reported in the journal Nature Genetics (Aug. 29, 2010) reveal that the new genome sequencing processes are suitable for tracking down individual mutations in the genome and for the identification of these mutations as the cause of rare diseases.

The Berlin-based researchers used high throughput sequencing technology for the first time to identify the genetic defect behind a very rare disease. "It was like the proverbial search for a needle in a haystack. We fished out solely the 22,000 genes from the entire genome, decoded their sequence and examined them for mutations. Using new bioinformatic analyses, we were able to limit the number of mutation candidates to two -- one of which is ultimately responsible for Mabry Syndrome," explains Michal Ruth Schweiger from the Max Planck Institute for Molecular Genetics. The available results will enable, for example, the identification of the genetic risk in affected couples who would like to have children.

Mabry Syndrome is a rare recessive genetic disorder that causes mental retardation, seizures and a characteristic mutation in the blood values of those affected. The raised level of the enzyme alkaline phosphatase, which usually plays a role in bone metabolism, can be measured in the blood. The researchers succeeded in showing that in the case of Mabry Syndrome the PIGV gene is mutated. PIGV codes, in turn, for an enzyme that is involved in the formation of the GPI anchor. This carbohydrate molecule binds proteins to the cell membrane. According to the scientists in Berlin, the gene for PIGV is mutated in such a way that the alkaline phosphatase is not adequately connected to the cell membrane. It separates from the membrane, accumulates in the blood, and thereby leads to an increase in blood levels. The researchers assume that PIGV in the brain is responsible for the anchoring of many other proteins and that this malfunction is responsible for the mental retardation associated with Mabry Syndrome.

Based on these results, the scientists will be able to carry out further research on the disease and develop new options for its treatment. The methods of genome analysis developed here enable the identification of mutations even in the case of extremely rare diseases and represent an important step forward in the direction of individualised molecular medicine.

[


Story Source:

The above story is based on materials provided by Max-Planck-Gesellschaft. Note: Materials may be edited for content and length.


Journal Reference:

  1. Peter M. Krawitz, Michal R. Schweiger, Christian Rödelsperger, Carlo Marcelis, Uwe Kölsch, Christian Meisel, Friederike Stephani, Taroh Kinoshita, Yoshiko Murakami, Sebastian Bauer, Melanie Isau, Axel Fischer, Andreas Dahl, Martin Kerick, Jochen Hecht, Sebastian Köhler, Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G. Brunner, Peter Meinecke, Eberhard Passarge, Miles D. Thompson, David E. Cole, Denise Horn, Tony Roscioli, Stefan Mundlos & Peter N. Robinson. Identity-by-Descent Filtering of Exome Sequence Data identifies PIGV mutations in Hyperphosphatasia Mental Retardation syndrome (HPMR). Nature Genetics, 2010

Cite This Page:

Max-Planck-Gesellschaft. "New method for genome analysis identifies the genetic effect of a rare form of mental retardation." ScienceDaily. ScienceDaily, 5 October 2010. <www.sciencedaily.com/releases/2010/08/100829202000.htm>.
Max-Planck-Gesellschaft. (2010, October 5). New method for genome analysis identifies the genetic effect of a rare form of mental retardation. ScienceDaily. Retrieved January 29, 2015 from www.sciencedaily.com/releases/2010/08/100829202000.htm
Max-Planck-Gesellschaft. "New method for genome analysis identifies the genetic effect of a rare form of mental retardation." ScienceDaily. www.sciencedaily.com/releases/2010/08/100829202000.htm (accessed January 29, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, January 29, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Malnutrition on the Rise as Violence Flares in C. Africa

Malnutrition on the Rise as Violence Flares in C. Africa

AFP (Jan. 28, 2015) — Violence can flare up at any moment in Bambari with only a bridge separating Muslims and Christians. Malnutrition is on the rise and lack of water means simple cooking fires threaten to destroy makeshift camps where people are living. Duration: 00:40 Video provided by AFP
Powered by NewsLook.com
Poultry Culled in Taiwan to Thwart Bird Flu

Poultry Culled in Taiwan to Thwart Bird Flu

Reuters - News Video Online (Jan. 28, 2015) — Taiwan culls over a million poultry in efforts to halt various strains of avian flu. Julie Noce reports. Video provided by Reuters
Powered by NewsLook.com
Media Criticizing Parents For Not Vaccinating Children

Media Criticizing Parents For Not Vaccinating Children

Newsy (Jan. 28, 2015) — As the Disneyland measles outbreak continues to spread, the media says parents who choose not to vaccinate their children are part of the cause. Video provided by Newsy
Powered by NewsLook.com
Shark Bite Victim Making Amazing Recovery

Shark Bite Victim Making Amazing Recovery

AP (Jan. 27, 2015) — A Texas woman who lost more than five pounds of flesh to a shark in the Bahamas earlier this month could be released from a Florida hospital soon. Experts believe she was bitten by a bull shark while snorkeling. (Jan. 27) Video provided by AP
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