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Stem cell research produces a key discovery for Fragile X Syndrome
September 11, 2007The results of this research have strong implications for the cellular causes of FXS and will open new streams of research
An important finding has been made by McMaster researchers about Fragile X Syndrome (FXS), a sex-linked genetic disorder that affects approximately one in 4,000 males and one in 6,000 females.
FXS is the most common genetic disorder associated with mental impairment. The affected gene (FMR1) leads to inactivation of the FMR1 gene product, known as the fragile X mental retardation protein (FMRP).
Brain development in the absence of this protein leads to cognitive effects, learning and memory problems, attention deficit, hyperactivity and autistic behaviors. Many children go undiagnosed with Fragile X.
Although the exact functions of FMRP in the brain are unresolved, there is compelling evidence that FMRP is important for normal function at the sites of communication between cells or neurons in the brain. Until now, FMRP was thought to be found only in neurons.
Stem cells are candidates for cell therapy in neurological disorders since they are capable of producing all cell types in the nervous system.
When studying the development of adult stem cells from the mouse brain, Laura Pacey, a Ph.D. student in professor Laurie Doering's laboratory, realized that cells, in addition to neurons, were also producing the FMRP. Doering is an associate professor in the Department of Pathology and Molecular Medicine.
Using specific markers to identify cell types, it was apparent that another major class of cells, called glial cells, also contained FMRP. Glial cells provide structural and metabolic support for neurons and they are necessary for normal function of the nervous system.
This discovery is important because these neuro-glial cells (astrocytes) play important roles in the development and maintenance of normal communication between neurons in the brain and spinal cord. So the absence of FMRP in astrocytes may contribute to the abnormal neuronal structures seen in the brains of Fragile X patients. The results of this research have strong implications for the cellular causes of FXS and will open new streams of research.
"This is an unexpected finding" states Doering. "Like fitting a piece of a puzzle that suddenly paints the main picture in a different perspective. We have another major cell type as a focus in Fragile X research. It will supply needed insight on the biology causing Fragile X and help to strengthen the potential for treatment strategies".
McMaster University
Brain development in the absence of this protein leads to cognitive effects, learning and memory problems, attention deficit, hyperactivity and autistic behaviors. Many children go undiagnosed with Fragile X.
Although the exact functions of FMRP in the brain are unresolved, there is compelling evidence that FMRP is important for normal function at the sites of communication between cells or neurons in the brain. Until now, FMRP was thought to be found only in neurons.
Stem cells are candidates for cell therapy in neurological disorders since they are capable of producing all cell types in the nervous system.
When studying the development of adult stem cells from the mouse brain, Laura Pacey, a Ph.D. student in professor Laurie Doering's laboratory, realized that cells, in addition to neurons, were also producing the FMRP. Doering is an associate professor in the Department of Pathology and Molecular Medicine.
Using specific markers to identify cell types, it was apparent that another major class of cells, called glial cells, also contained FMRP. Glial cells provide structural and metabolic support for neurons and they are necessary for normal function of the nervous system.
This discovery is important because these neuro-glial cells (astrocytes) play important roles in the development and maintenance of normal communication between neurons in the brain and spinal cord. So the absence of FMRP in astrocytes may contribute to the abnormal neuronal structures seen in the brains of Fragile X patients. The results of this research have strong implications for the cellular causes of FXS and will open new streams of research.
"This is an unexpected finding" states Doering. "Like fitting a piece of a puzzle that suddenly paints the main picture in a different perspective. We have another major cell type as a focus in Fragile X research. It will supply needed insight on the biology causing Fragile X and help to strengthen the potential for treatment strategies".
McMaster University
Fragile X Syndrome Current Events and Fragile X Syndrome News RSSUCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome
A UC Riverside-led team of biomedical scientists has found that a readily available drug called minocycline, used widely to treat acne and skin infections, can be used to treat Fragile X syndrome, the most common inherited cause of mental impairment and the most common cause of autism.
The first autism disease genes
The autistic disorder was first described, more than sixty years ago, by Dr. Leo Kanner of the Johns Hopkins Hospital (USA), who created the new label 'early infantile autism'.
New research on mutation in yeast can enhance understanding of human diseases
Yeast, a model organism heavily relied upon for studying basic biological processes as they relate to human health, mutates in a distinctly different pattern than other model organisms, a finding that brings researchers closer to understanding the role of evolutionary genetics in human diseases and cancer.
Drosophila drug screen for fragile X syndrome finds promising compounds and potential drug targets
Scientists using a new drug screening method in Drosophila (fruit flies), have identified several drugs and small molecules that reverse the features of fragile X syndrome -- a frequent form of mental retardation and one of the leading known causes of autism.
Researchers uncover mechanisms of common inherited mental retardation
Researchers at UT Southwestern Medical Center are uncovering how brain cells are affected in Fragile X syndrome, the most common cause of inherited mental retardation and the most common genetic cause of autism.
MIT corrects inherited retardation, autism in mice
Researchers at MIT's Picower Institute for Learning and Memory have corrected key symptoms of mental retardation and autism in mice.
Fragile X retardation syndrome corrected in mice
Researchers working with mice have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation.
UCI researchers restore memory process in most common form of mental disability
University of California, Irvine scientists have discovered how to reverse the learning and memory problems inherent in the most common form of mental impairment.
Scientists identify fundamental brain defect, probable drug target in fragile X syndrome
Scientists have discovered how the gene mutation responsible for fragile X syndrome--the most common inherited form of mental retardation--alters the way brain cells communicate.
Researchers develop mouse model of autism spectrum disorders
Howard Hughes Medical Institute researchers have genetically engineered mice that harbor the same genetic mutation found in some people with autism and Asperger syndrome.
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