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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 RSSClinical 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.
Genetic marker linked to problem behaviors in adults with developmental disabilities
A common variation of the gene involved in regulating serotonin and norepinephrine in the brain may be linked to problem behaviors in adults with developmental and intellectual disabilities, new research indicates.
Measuring intellectual disability
Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome.
Small molecules might block mutant protein production in Huntington's disease
Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.
Melatonin is an effective treatment for sleep problems in children with autism
A study in the April 15 issue of the Journal of Clinical Sleep Medicine determined that over-the-counter melatonin medication can shorted the length of time it takes for children with autistic spectrum disorder (ASD), Fragile X Syndrome (FXS), or both to fall asleep at the beginning of the night.
Research breakthrough targets genetic diseases
A cure for debilitating genetic diseases such as Huntington's disease, Friedreich's ataxia and Fragile X syndrome is a step closer to reality, thanks to a recent scientific breakthrough.
Biologists discover link between CGG repeats in DNA and neurological disorders
Researchers have long known that some repetitive DNA sequences can make human chromosomes "fragile," i.e. appearing constricted or even broken during cell divisions.
Promising new drug being evaluated as possible treatment option for fragile X syndrome
A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS).
M.I.N.D. Institute researchers call for fragile X testing throughout the lifespan
Writing in this week's Journal of the American Medical Association, UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages.
More Fragile X Syndrome Current Events and Fragile X Syndrome News Articles
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Children with Fragile X Syndrome: A Parents' Guide by Jayne Dixon Weber (Editor) Fragile X syndrome is believed to be the most common genetic cause of mental retardation, even more common than Down syndrome. It can result in a wide range of developmental delays, learning disabilities, and physical characteristics-which all tend to be more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The first and only book of its kind, Children with Fragile X Syndrome provides a complete, sensitive introduction to fragile X syndrome, an inherited, genetic condition caused by a mutation on the X chromosome. This new guide is written by renowned professionals and experienced parents, who offer an in-depth look at the issues and concerns affecting children and their families. It covers: diagnosis; parental... |
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Fragile X Syndrome: Diagnosis, Treatment, and Research (Johns Hopkins Series in Contemporary Medicine and Public Health) by Randi Jenssen Hagerman MD (Editor), Paul J. Hagerman MD PhD (Editor) Univ. of California, Davis. Text discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, molecular biology and genetics, and neuropsychology. Also presents data on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy. Previous edition: c1996. Softcover, hardcover also available. |
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ABC News Nightline Fragile X Syndrome (2 DVD set) Michael and Lisa Kelly decided some years ago that they wanted to work together and work at home so they could spend more time with their two boys, Dillon and Ryan. The Kelley's older son Dillon has "Fragile X syndrome," a disease which manifests itself as a form of mental retardation. According to the National Fragile X Foundation, Fragile X (FXS) is, "the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development." ABC News introduces you to this remarkable family coping with a child with FXS while trying to give both of their sons normal and happy lives. Anchor:... |
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Fragile X Syndrome: A Guide for Teachers by Suzann Saunders (Author) Fragile X Syndrome is thought to be the most common inherited cause of learning difficulties. However many people have never heard of it and those who have, including many of the professionals who work with those affected by it, have little knowledge or understanding of the condition. This book brings up to date research with information and advice from teachers who are discovering, first hand, the best ways of educating children with Fragile X. It is much needed support and advice that will help teachers to understand the child with Fragile X and encourage maximum educational progress. / While the book is aimed at teachers, it is also an excellent resource for parents, therapists and any professional working with a child who has Fragile X. |
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Fragile X Syndrome [VHS] Directed By: Don Brown | |
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Supporting Children with Fragile X Syndrome by Learning Servic (Author) Off-the-shelf support containing all the vital information practitioners need to know about Fragile X Syndrome, this book includes: * Definition of Fragile X Syndrome and its educational implications * Ideas on how to improve access to the curriculum * Advice on how to manage support staff * Guidance on coordinating home and school liaison |
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Fragile X Syndrome on DVD Starring: World Educational Resources Group Directed By: Bette Brown | |
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Fragile X Fragile Hope: Finding Joy In Parenting A Child with Special Needs by Elizabeth Griffin (Author) Elizabeth Griffin's son Zack has fragile X syndrome-the most common known cause of inherited mental impairment-and is among the 20 percent of people with fragile X who have autism. Whether you are a parent of a child with special needs or you struggle with unresolved grief, chronic stress, or depression, "Fragile X, Fragile Hope" shows without a doubt that you can survive, and more than survive, you can find your way back to a joy-filled life. |
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Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome (Communication and Language Intervention Series) by Joanne E. (Author), Ph.D. Roberts (Author), Joanne E. (Editor), Ph.D. Roberts (Editor), Robin S. Chapman (Editor), Steven F. Warren (Editor) This book presents the latest research on speech and language development and relevant assessment and intervention for individuals who have Fragile X Syndrome (FXS) or Down Syndrome (DS). The book reviews the current state of knowledge on both syndromes across the lifespan. |
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Educating Children with Fragile X Syndrome: A Multi-Professional View by D. Dew-HugHes (Author) Featuring contributions from professionals working and researching in a wide variety of fields, the book provides invaluable information, support, and guidance on educating a child with Fragile X. |
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