Featured Research

from universities, journals, and other organizations

Human Embryonic Stem Cells Derived From Preimplantation Genetically Diagnosed Embryos

Date:
November 15, 2007
Source:
Cell Press
Summary:
A human stem cell line derived from embryos that were identified by preimplantation genetic diagnosis to carry the mutation for fragile X syndrome has provided an unprecedented view of early events associated with this disease. In addition to giving scientists fresh insight into fragile X, results from this unique model system have emphasized the value of this new source of embryonic stem cells and may have a significant impact on the way that genetic diseases are studied in the future.

A human stem cell line derived from embryos that were identified by preimplantation genetic diagnosis (PGD) to carry the mutation for fragile X syndrome has provided an unprecedented view of early events associated with this disease. In addition to giving scientists fresh insight into fragile X, results from this unique model system have emphasized the value of this new source of embryonic stem cells and may have a significant impact on the way that genetic diseases are studied in the future.

Related Articles


Fragile X syndrome, the most common cause of inherited mental impairment and of autism, is caused by the absence of the fragile X mental retardation protein (FMRP). Most individuals with fragile X exhibit a specific mutation in the fragile X mental retardation 1 (FMR1) gene that usually coincides with epigenetic DNA modifications. However, the developmental timing and mechanisms associated with acquisition of these characteristics are not clear due to the absence of appropriate cellular and animal models.

To examine developmentally regulated events involved in fragile X pathogenesis, Dr. Nissim Benvenisty and Dr. Rachel Eiges from the Hebrew University Department of Genetics in Jerusalem, Israel, together with Dr. Dalit Ben-Yosef from the IVF unit at the Tel-Aviv Sourasky Medical Center, established a human embryonic stem cell (HESC) line from a preimplantation fragile X-affected embryo identified by PGD. The fragile X cell line, called HEFX, displayed all characteristics typical of an HESC line and possessed the full genetic mutation observed in fragile X patients.

The researchers found that undifferentiated HEFX cells transcribed FMR1 and expressed FMRP, suggesting that the fragile X mutation by itself is not sufficient to cause FMR1 inactivation. The research team went on to show that differentiated derivatives of HEFX cells exhibited a decrease in FMRI transcription and FMRP expression along with an increase in epigenetic modifications associated with fragile X syndrome. "The fact that FMR1 inactivation and other modifications take place after differentiation suggests that it might be possible to prevent some of these events as an attempt to rescue the abnormal phenotype in cells with the full fragile X mutation," suggests Dr. Benvenisty.

HEFX cells represent an excellent model for examination of early embryogenesis and will contribute to a clearer understanding of the molecular mechanisms underlying fragile X pathogenesis. This research is also compelling on a more general level in that it validates the usefulness of HESCs derived from embryos that have been screened for specific mutations with PGD. ESC lines derived in this manner represent a potent tool for the study of a variety of human diseases and the development of new therapeutic strategies.

The research is published in the November issue of the journal Cell Stem Cell, published by Cell Press.

The researchers include Rachel Eiges, Achia Urbach, Amir Eden, Ofra Yanuka, andNissim Benvenisty, of the Silberman Institute of Life Science, The Hebrew University, Jerusalem, Israel; Mira Malcov, Tsvia Frumkin, Tamar Schwartz, Dalit Ben-Yosef, Ami Amit, and Yuval Yaron, of the Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.


Story Source:

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


Cite This Page:

Cell Press. "Human Embryonic Stem Cells Derived From Preimplantation Genetically Diagnosed Embryos." ScienceDaily. ScienceDaily, 15 November 2007. <www.sciencedaily.com/releases/2007/11/071114121328.htm>.
Cell Press. (2007, November 15). Human Embryonic Stem Cells Derived From Preimplantation Genetically Diagnosed Embryos. ScienceDaily. Retrieved November 27, 2014 from www.sciencedaily.com/releases/2007/11/071114121328.htm
Cell Press. "Human Embryonic Stem Cells Derived From Preimplantation Genetically Diagnosed Embryos." ScienceDaily. www.sciencedaily.com/releases/2007/11/071114121328.htm (accessed November 27, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, November 27, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com
From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. 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