Featured Research

from universities, journals, and other organizations

Researchers Begin To Unlock Genetic Mysteries Of Down Syndrome

Date:
December 5, 2002
Source:
New York University Medical Center And School Of Medicine
Summary:
One of the most common genetic abnormalities is Down syndrome, which occurs when a person inherits three copies of chromosome 21 instead of the normal complement of two. Although the association has long been known, no one understands how the extra genetic material produces the syndrome, which is the most common genetic cause of mental retardation.

One of the most common genetic abnormalities is Down syndrome, which occurs when a person inherits three copies of chromosome 21 instead of the normal complement of two. Although the association has long been known, no one understands how the extra genetic material produces the syndrome, which is the most common genetic cause of mental retardation.

Now, new research is helping to provide an answer to this medical mystery. Researchers at NYU School of Medicine and colleagues in France and Germany, have taken a genetic tour of chromosome 21. They have identified where the chromosomes' switched-on genes are found in the brain, a significant accomplishment that may lead to the identification of the genes that contribute to Down syndrome.

"Our study provides a road map with clear signposts to the culprits of Down syndrome," says Ariel Ruiz i Altaba, Ph.D., Associate Professor of Cell Biology at NYU School of Medicine's Skirball Institute of Biomolecular Medicine, and one of the lead authors of the study. "There are now clearly defined candidate genes in the brain, heart and elsewhere that we can look at," says Dr. Ruiz i Altaba, whose laboratory is devoted to understanding brain development. "The next step is to understand how these genes function normally. Once we know which ones cause defects in the brain when their expression is altered, we will be in a position to see if rational therapies for Down syndrome are possible."

Down syndrome affects one in about 800 to 1,000 live births, according to the National Down Syndrome Society, an advocacy organization, which estimates that more than 350,000 people in the United States have the syndrome. In addition to affecting cognitive abilities, it is associated with abnormalities in the head and face, the heart, and other organs.

The complete DNA sequence of human chromosome 21 was published two years ago. Using sophisticated genetic techniques, Dr. Ruiz i Altaba and his colleagues found the mouse genes that correlated with the human genes on chromosome 21, and looked at where the mouse genes were turned on most strongly in the early developing mouse, as well as in the brain of two-day-old mice. There is a syndrome, similar to Down, that occurs in mice.

Dr. Ruiz i Altaba's interest in chromosome 21 stems from his studies in developmental genetics. He is particularly interested in genes that determine patterns of development, such as Sonic hedgehog and Gli. His laboratory has linked defects in these genes to cancer and holoprosencephaly, a congenital brain defect. These discoveries were made using embryos and genes from experimental animals, such as mice and frogs, and then linking these genes to their human counterparts. This is possible because mice and humans (as well as other animals) have many similar genes, a process biologists call "conservation."

Dr. Ruiz i Altaba and colleagues' study, published in the Dec. 5 issue of the journal Nature, accompanies the landmark publication of the entire genome of mouse in the same issue of the journal. The completion of the mouse genome, along with the recently completed sequencing of the human genome, is expected to greatly advance the understanding of human genetic diseases because humans and mice share many genes, and unlike humans, mice can be laboratory models for human disease. The mouse is the first mammal, other than humans, to have its genome, the DNA sequences along all of its chromosomes, completely sequenced.

In addition to Dr. Ruiz i Altaba, the NYU researchers included Nadia Dahmane, who now has her own lab at the Universite de la Mediterrannee in Marseille, France, Yorick Gitton, and Sonya Balk. Co-authors were from the Max Planck Institute for Molecular Genetics in Berlin and the Max Planck Institute for Immunology in Freiburg.


Story Source:

The above story is based on materials provided by New York University Medical Center And School Of Medicine. Note: Materials may be edited for content and length.


Cite This Page:

New York University Medical Center And School Of Medicine. "Researchers Begin To Unlock Genetic Mysteries Of Down Syndrome." ScienceDaily. ScienceDaily, 5 December 2002. <www.sciencedaily.com/releases/2002/12/021205083700.htm>.
New York University Medical Center And School Of Medicine. (2002, December 5). Researchers Begin To Unlock Genetic Mysteries Of Down Syndrome. ScienceDaily. Retrieved September 18, 2014 from www.sciencedaily.com/releases/2002/12/021205083700.htm
New York University Medical Center And School Of Medicine. "Researchers Begin To Unlock Genetic Mysteries Of Down Syndrome." ScienceDaily. www.sciencedaily.com/releases/2002/12/021205083700.htm (accessed September 18, 2014).

Share This



More Health & Medicine News

Thursday, September 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Artificial Sweetener Could Promote Diabetes

Artificial Sweetener Could Promote Diabetes

Newsy (Sep. 17, 2014) Doctors once thought artificial sweeteners lacked the health risks of sugar, but a new study says they can impact blood sugar levels the same way. Video provided by Newsy
Powered by NewsLook.com
Ebola Vaccine Trial Gets Underway at Oxford University

Ebola Vaccine Trial Gets Underway at Oxford University

AFP (Sep. 17, 2014) A healthy British volunteer is to become the first person to receive a new vaccine for the Ebola virus after US President Barack Obama called for action against the epidemic and warned it was "spiralling out of control." Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Obesity Rates Steady Even As Americans' Waistlines Expand

Obesity Rates Steady Even As Americans' Waistlines Expand

Newsy (Sep. 17, 2014) Researchers are puzzled as to why obesity rates remain relatively stable as average waistlines continue to expand. Video provided by Newsy
Powered by NewsLook.com
President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. 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