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Crucial progress in understanding Fragile X mental retardation protein
June 07, 2007Researchers in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine have identified a new regulatory target for the Fragile X mental retardation protein (FMRP), laying the groundwork for possible new treatments for Fragile X syndrome(FXS), the leading inherited form of mental retardation.
The findings, published in the early online edition of the June Proceedings of the National Academy of Sciences, also have implications for autism, which shares a common physiological pathway with FXS.
Fragile X syndrome is mainly caused by a mutation in the FMR1 gene on the X chromosome, leading to the loss of FMRP, which is abundantly expressed in the brain and testes. Without this protein, brain development is hampered and nerve cells cannot communicate with each other appropriately, resulting in the reduced ability to learn and memorize. Fragile X syndrome affects about one in 4,000 males and one in 8,000 females. About 20 percent of children with FXS have autism and about five percent of autistic children have FXS.
The research team led by Yingqun Huang, M.D., assistant professor in Yale Ob/Gyn, previously found that FMRP interacts with a nuclear mRNA export protein NXF2, in the mouse brain and testes. In this study, the team used mouse neuronal cells to explore the functional characteristics of this interaction.
"We found that FMRP, together with NXF2, acts to down-regulate the expression of its target, the messenger RNA that encodes NXF1, which is an essential protein needed to transport most mRNAs from the nucleus to the cytoplasm of cells," said Huang. "Our findings explain why the NXF1 protein level is much lower in the hippocampal neurons involved in learning and memory than in many other cells. This may suggest that a high level of NXF1 might hinder the function of these cells."
"We are one of the first two labs to show that FMRP regulates gene expression at the mRNA stability level," Huang added. "The idea is to find the mechanisms underlying the function of FMRP so in the future, we can develop more effective interventions."
Huang said future studies will look more closely at how FMRP works with NXF2 to regulate its targets. She said, "We expect to identify more targets which are regulated by FMRP and NXF2. This will be a new direction in the FMRP research field."
Yale University
The research team led by Yingqun Huang, M.D., assistant professor in Yale Ob/Gyn, previously found that FMRP interacts with a nuclear mRNA export protein NXF2, in the mouse brain and testes. In this study, the team used mouse neuronal cells to explore the functional characteristics of this interaction.
"We found that FMRP, together with NXF2, acts to down-regulate the expression of its target, the messenger RNA that encodes NXF1, which is an essential protein needed to transport most mRNAs from the nucleus to the cytoplasm of cells," said Huang. "Our findings explain why the NXF1 protein level is much lower in the hippocampal neurons involved in learning and memory than in many other cells. This may suggest that a high level of NXF1 might hinder the function of these cells."
"We are one of the first two labs to show that FMRP regulates gene expression at the mRNA stability level," Huang added. "The idea is to find the mechanisms underlying the function of FMRP so in the future, we can develop more effective interventions."
Huang said future studies will look more closely at how FMRP works with NXF2 to regulate its targets. She said, "We expect to identify more targets which are regulated by FMRP and NXF2. This will be a new direction in the FMRP research field."
Yale University
Mental Retardation Current Events and Mental Retardation News RSSResearch reveals lipids' unexpected role in triggering death of brain cells
The lipid that accumulates in brain cells of individuals with an inherited enzyme disorder also drives the cell death that is a hallmark of the disease, according to new research led by St. Jude Children's Research Hospital investigators.
Developmental delay could stem from nicotinic receptor deletion
The loss of a gene through deletion of genetic material on chromosome 15 is associated with significant abnormalities in learning and behavior, said a consortium of researchers led by Baylor College of Medicine (www.bcm.edu) in a report that appears online today in the journal Nature Genetics.
Indiana U. at APHA: Studies about health education for people with ID, stability balls at work
An Indiana University study involving adults with intellectual disabilities found that the adults increased their personal health knowledge after taking a semi-weekly class for four weeks.
Clinical tests begin on medication to correct Fragile X defect
NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability.
Trembling hands and molecular handshakes
Fragile X tremor/ataxia syndrome (FXTAS) is a recently recognized condition, which is actually one of the most prevalent heritable neurodegenerative diseases.
Researchers restore missing protein in rare genetic brain disorder
UCSF researchers have successfully used protease inhibitors to restore to normal levels a key protein involved in early brain development. Reduced levels of that protein have been shown to cause the rare brain disorder lissencephaly, which is characterized by brain malformations, seizures, severe mental retardation and very early death in human infants.
Scripps Research, UCSD, and University of Oslo team ties genetic variations to brain size
Using advanced brain imaging and genomics technologies, an international team of researchers co-led by Scripps Research Institute scientists has shown for the first time that natural variations in a specific gene influence brain structure.
Common variation in gene linked to structural changes in the brain
An international group of researchers is the first to show that common variations in a gene - previously shown to be associated with Retts Syndrome, autism, and mental retardation - are associated with differences in brain structure in both healthy individuals and patients with neurological and psychiatric disorders.
Unlikely genetic suspect implicated in common brain defect
A genetic search that wound its way from patients to mouse models and back to patients has uncovered an unlikely gene critically involved in a common birth defect which causes mental retardation, motor delays and sometimes autism, providing a new mechanism and potentially improving treatment for the disorder.
Mutations in gene linked to ciliopathies
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies.
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