HOME >> BIOLOGY >> NEWS
Scientists find impaired chromatin structure formation & imprinted gene involvement in Rett Syndrome

December 20, 2004 - A research team led by Terumi Kohwi-Shigematsu of the Life Sciences Division of Lawrence Berkeley National Laboratory has identified a gene, DLX5, that may play a role in the pathology of Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls. Their findings are reported in the January issue of Nature Genetics and currently available online. The team also found that Rett Syndrome is associated with impaired three-dimensional chromatin folding.

Children with Rett Syndrome (RTT) appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living.

Mutations in a gene called MECP2 (methyl CpG-binding protein 2) were identified in 1999 as the leading cause of RTT. MECP2 is believed to function as a transcriptional repressor of its downstream genes. When genes need to be silenced so that a protein is not produced in a given cell, methyl groups attach to CpG dinucleotides, which are often clustered in areas of the gene called CpG islands. MECP2 then binds to these methylated CpG sites, shutting down the gene's production of its protein.

Faulty over-expression of target genes caused by mutated MeCP2 is an underlying hypothesis explaining RTT symptoms. Although MeCP2 is expressed throughout the body, RTT is a disorder of the central nervous system and therefore it is crucial to identify MECP2's target genes in the brain.

Dr. Kohwi-Shigematsu and colleagues have identified an MECP2 target gene, DLX5, involved in the synthesis of GABA, gamma-aminobutyric acid, an important neurotransmitter. Interestingly, DLX5 is an imprinted gene, meaning its expression status depends on whether the gene came from the mother or the f
'"/>

Contact: Monica Coenraads
monica@rsrf.org
203-445-9233
Rett Syndrome Research Foundation
20-Dec-2004


Page: 1 2 3

Related biology news :

1. Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
2. Scientists prove that disputed Korean stem cell line comes from an unfertilized egg and not cloning
3. Scientists move closer to bio-engineered bladders
4. Scientists find stem cell switch
5. Scientists discover new way to study nanostructures
6. Scientists a step closer to understanding how anaesthetics work in the brain
7. Scientists to make news at Computational Biology Conference
8. Accident-prone? Scientists link brain function to knee injuries
9. Scientists take next step in understanding potential target for ovarian cancer treatment
10. Scientists find brown fat master switch
11. Scientists identify 2 distinct Parkinsons networks

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


(Date:7/18/2020)... ... July 17, 2020 , ... Commercial launch readiness is a critical stage in ... COVID cure or vaccine, the global economic downturn will only increase price pressures overall ... away and capturing full value from every product launch is critical. However, history shows ...
(Date:7/2/2020)... REDWOOD CITY, Calif. (PRWEB) , ... July 01, ... ... stage biotech company, presented its phase 1a findings of Neihulizumab, a biologic for ... annual conference in June 2020. Led by hemato-oncologist Dr. Paul J Martin of ...
(Date:6/28/2020)... ... June 25, 2020 , ... ... announced that it has entered into a multi-year contract with Merus N.V., ... their translational and clinical research strategy to discover and develop ground-breaking drugs. ...
Breaking Biology News(10 mins):
(Date:7/31/2020)... ... July 29, 2020 , ... R3 Stem Cell International is ... $3950. With 50 million stem cells total, patients may choose which extremities they would ... for arthritic joints (BMC Musculoskelet Disord. 2016). At R3 International, umbilical cord tissue is ...
(Date:7/31/2020)... ... , ... eSource has long been touted as the solution to high data ... the reasons it did not take off as quickly as people initially expected, and ... moving towards capturing data electronically for clinical trials and then repurposing it for downstream ...
(Date:7/18/2020)... , ... July 16, 2020 , ... “We are thrilled ... Wave Bioactives. “It’s the only technology of its kind on the market and we ... onions with the protective capacity of traditional cultured ingredients, creating a natural way to ...
(Date:7/10/2020)... , ... July 09, 2020 , ... ... 1-phenyl-2-thiourea (PTU) is commonly used to suppress pigment formation in zebrafish embryos, maintaining ... research team led by Dr MA has been using the zebrafish model to ...
Breaking Biology Technology:
Cached News: