HOME >> BIOLOGY >> NEWS
Rett Syndrome traced to defective gene 'silencer'

dominant (one mutant copy of the gene would trigger the disease) and lethal.

Such properties would explain why only girls develop RTT. A female fetus could survive the effects of the otherwise lethal mutation because it has two X chromosomes -- one that harbors a normal copy of the gene and the other a defective copy. The normal gene can compensate partially for the defective gene, allowing the fetus to survive. In a male fetus, however, there would be no opportunity to inherit a compensating, functional copy of the gene since the male fetus has but one X chromosome. As a result, development is so out of kilter that the male fetus dies either before or shortly after birth.

Zoghbi, aided by Francke and members of her laboratory, narrowed the search for the RTT gene by analyzing shared and unshared DNA sequences in a small number of Rett families. By 1998, other scientists helped to further narrow the search to about 200 candidate genes. Postdoctoral fellows Ruthie Amir of Zoghbi's laboratory and Mimi Wan of Francke's laboratory, assisted by technician Charles Tran, split up the work of analyzing those 200 genes.

A quarter of the way through a set of 50 candidate genes, Igna Van den Veyver, a member of Zoghbi's lab, suggested to Amir that MECP2 would be an excellent candidate gene. Sure enough, Amir found mutations in MECP2 that were shared by about 30 percent of their RTT patients.

Zoghbi said that it is not yet clear exactly how MECP2 defects cause RTT. One hypothesis, she said, is that the defective MeCP2 protein allows genes to remain active that should have been silenced at points along the precisely timed process of nervous system development.

"The exciting part of this discovery is not just what it may mean for RTT patients," she explained. "Now we know about a whole genetic pathway involved in neural development, and that human disease can result from its destruction. Many other disorders could be
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
1-Oct-1999


Page: 1 2 3 4

Related biology news :

1. Introduction of the Rett protein in post-mitotic neurons rescues Rett Syndrome in mice
2. Researchers discover novel form of the Rett Syndrome protein
3. Study offers new insight into Rett Syndrome
4. RSRF-funded study leads to breakthrough for Rett Syndrome research
5. The Rett Syndrome Research Foundation commits $1.3 million for 2003 research awards
6. Folic acid may have no immediate impact on Down Syndrome
7. A derivative of the green tea leaf may help with Metabolic Syndrome X, a potentially deadly disorder
8. Researchers find a genetic connection in Sudden Infant Death Syndrome (SIDS)
9. CDC MMWR: Fetal Alcohol Syndrome and Cutaneous Anthrax in a Lab Worker
10. Scientists create first animal model of Rett Syndrome
11. Gene for DiGeorge Syndrome discovered

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/4/2019)... ... June 04, 2019 , ... ... salient features of seizure risk signals, usually based on variations of amplitude, frequency ... the only acceptable diagnostic methodology due to the complexity and variability of the ...
(Date:6/1/2019)... ... May 31, 2019 , ... The University of Vermont Health ... BioFactura’s $6M Series B Financing Round. , “With the commitment from the ... significant financial and business resources to bear as we advance our biopharmaceutical products ...
(Date:5/31/2019)... ... May 30, 2019 , ... ... in a live webinar on Wednesday, June 19, 2019 at 1pm ... teams, medical review teams, data management teams and contract research organizations (CROs) can ...
Breaking Biology News(10 mins):
(Date:6/11/2019)... ... June 11, 2019 , ... A study ... stem cells (MSC-EV) are able to incorporate into human CD34+ cells, modifying their ... mice, MSC-EVs also increased the cells’ ability to lodge into bone marrow. This ...
(Date:5/31/2019)... ... May 30, 2019 , ... Object Pharma, ... the strategic acquisition of Metabiologics, Inc., a globally recognized leader in the production ... and commercialization rights to a full spectrum of botulinum neurotoxins, as well as ...
(Date:5/15/2019)... ... 16, 2019 , ... Emulsifiers are the magic bullet when ... rely on these ingredients to create stable quality food that can withstand shelf-life ... triggers food formulators to seek out alternatives for starches, gums and chemical emulsifiers. ...
(Date:5/4/2019)... ... May 03, 2019 , ... More than three thousand ... Association, the scientist and ufologist Urandir Fernandes de Oliveira, last Thursday (25), during ... results of some research carried out by the association, in partnership with scientists ...
Breaking Biology Technology:
Cached News: