Measuring intellectual disability
... and quantitative means of measuring levels of the fragile X mental retardation
1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. The ... by Iwahashi et al, "A quantitative ELISA assay for the fragile X mental retardation
1 protein," appears in the July 2009 issue of the Journal of Molecular ...
UC Davis researchers define characteristics, treatment options for XXYY syndrome
... percent had autism spectrum disorders. In the previous literature, mental retardation
was the norm. This study, however, found that only 29.1 percent had IQ scores within the mental retardation
range. Learning disabilities were the more common cognitive impairments, ...
Experimental treatment halts hypoxic-ischemic brain injury in newborns
... brains of newborns suffering from oxygen and blood flow deprivation stops a type of brain damage that is a leading cause of cerebral palsy, mental retardation
and death, according to researchers at Cincinnati Children's Hospital Medical Center.
Reporting their results in the Journal of Neuroscience , ...
Powerful nutrient cocktail can put kids with Crohn's into remission
... Gastroenterology and Nutrition .
Eating Like an Astronaut
Dr. Shamir's research was inspired by the problem of malnutrition and growth retardation
in children battling IBD. Steroids and other biological agents, the most common treatment for IBD, were having an adverse affect on the children's ...
Protein linked to mental retardation controls synapse maturation, plasticity, CSHL team finds
"Great progress has been made in recent years in the identification of chromosomal abnormalities and genetic changes involved in mental retardation
(MR)," says Professor Linda Van Aelst, Ph.D., who led the CSHL research team. "We know of at least 280 genes that are implicated, in fact. But what ...
New guidelines to fight obesity in pregnancy issued
... cause of newborn death and babies who survive an early birth often face the risk of lifetime health challenges, such as breathing problems, mental retardation
and others. Even babies born just a few weeks too soon (34-36 weeks gestation, also known as late preterm birth) have higher rates of death and ...
Preclinical work shows how one gene causes severe mental retardation
... University Medical Center and the University of North Carolina have discovered in mice how a single disrupted gene can cause a form of severe mental retardation
known as Angelman syndrome.
In a study published in the journal Nature Neuroscience , they found that the gene, UBE3A, is needed so that ...
Regulation of cell proliferation by the OGF-OGFr axis is dependent on nuclear localization signals
... the nuclear compartments. The OGF-OGFr axis is known to regulate cell proliferation by modulating cyclin dependent kinase inhibitors, resulting in a retardation
of cells at the G1-S interface of the cell cycle. To address the question of the location and temporal relationships of OGFr nucleocytoplasmic ...
Consumers desire more genetic testing, but not designer babies
... diseases and enhancements.
The study found that the majority of respondents would elect for the screening of the following conditions: mental retardation
(75%), deafness (54%), blindness (56%), heart disease (52%), and cancer (51%). The results indicate that less than half of population (49.3%) would ...
New technology aims to reduce maternal and neonatal deaths
... of all maternal deaths, 80,000 premature births and associated neonatal complications, which can have life-long impact such as cerebral palsy, mental retardation
Screening and early detection are key given that there are no known cures for preeclampsia, and the only treatment available to ...
'Fly guy' makes memory breakthrough
... with Fragile X syndrome may have learning and memory problems, epilepsy and autism.
"We know that 87 per cent of the genes found in human mental retardation
have homologs in fruit flies, so we're confident that we're on to something here," said Bolduc, whose research was recently published in Nature ...
Rare genetic disorder gives clues to autism, epilepsy, mental retardation
... can potentially be restored.
If this could be done safely in humans, it might be possible to ameliorate the symptoms of epilepsy, mental retardation
and autism, which are frequent complications of TSC, say the researchers. Their findings, accompanied by commentary, were the cover article of the ...
CSHL team traces extensive networks regulating alternative RNA splicing
... brain, heart, and skeletal muscle. This is consistent with prior studies showing that some people with genetic diseases including epilepsy, mental retardation
and autism, have mutations of the Fox-1 gene or abnormally express it.
"The Fox-1 and -2 proteins are essential regulators of specific splicing ...
Monitoring outcomes of suicide attempts in pregnancy can better assess drug dangers
... were compared with results for siblings whose gestational periods were normal. The researchers recorded occurances of congenital abnormalities, retardation
in fetal growth (the most sensitive indicator of a fetotoxic effect of drugs), rates of preterm and low birthweight babies, and the deatials of the ...
Model for angelman syndrome developed by University of Texas at Austin biologists
... AUSTIN, TexasA model for studying the genetics of Angelman syndrome, a neurological disorder that causes mental retardation
and other symptoms in one out of 15,000 births, has been developed by biologists at The University of Texas at Austin.
Their research demonstrates ...
Imiquimod, an immune response modifier, is dependent on the OGF-OGFr signaling pathway
... native, tonically active inhibitory pathway is known to regulate cell proliferation by modulating cyclin dependent kinase inhibitors, resulting in a retardation
of cells at the G1-S interface of the cell cycle. Neutralization of OGF or knockdown of OGFr by siRNA technology eliminated the inhibitory effects ...
Researcher helping to pioneer medical therapy for Fragile X Syndrome presents latest findings
... with Fragile X also will be attending the conference.
Fragile X, an X-chromosome-linked condition, is the most common inherited cause of mental retardation
and the most common known cause of autism or autistic-like behaviors.
Rush's Dr. Elizabeth Berry-Kravis, will be leading a number of discussions at ...
Drug reverses mental retardation caused by genetic disorder
... of neurobiology and psychiatry at the David Geffen School of Medicine at UCLA. "Our work and other recent studies suggest that some forms of mental retardation
can be reversed, even in the adult brain."
"These findings challenge the theory that abnormal brain development is to blame for mental impairment ...
New gene discovered for new form of intellectual disability
... The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation
(MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. ...
UCI researchers restore memory process in most common form of mental disability
... how a mutated gene linked to fragile X syndrome blocks brain cells from locking new memories into lasting ones. The gene -- called fragile X mental retardation
1 (Fmr1) -- is turned off in people with fragile X syndrome. This genetic mutation disrupts cellular processes that are needed for memory formation. ...
Study reveals possible genetic risk for fetal alcohol disorders
... findings represent the first evidence of a genetic risk for fetal alcohol spectrum disorder - a condition that is characterized by profound mental retardation
in its most severe form, but which is also associated with deficits in learning, attention, memory and impulse control.
By identifying a genetic ...
Rutgers Genetics receives $7.8 million for autism research
... Molecular tests will eliminate individuals with other diseases that might mimic autism, such as fragile X syndrome the most common cause of mental retardation
The genetic bases of this new autism mechanism are only distinguishable with novel technologies, and that is why we missed them in the ...
Deep into the machinery of adult fragile X
... led by co-senior authors David Nelson and Juan Botas.
FXTAS, like fragile X syndrome, is produced by a mutation in the fragile X mental retardation
gene, FMR1. However, unlike fragile X syndrome, in which the mutation causes complete loss of the genes functions, the FXTAS mutation produces a ...
Researchers identify proteins involved in new neurodegenerative syndrome
... too many repeats of the tri-nucleotide CGG. Those with fragile X syndrome have more than 200 repeats, causing the person to lack the fragile X mental retardation
protein (FMRP) encoded by the gene. Those who develop fragile X-associated tremor/ataxia syndrome later in life have a premutation set of repeats of ...
Gene found for rare disorder may reveal new pathway in mental retardation
... human development, potentially in cases of mental retardation
An international team of ... suggests that a subset of patients with mental retardation
may have mutations in these genes, without ... with abnormal brain development, in mental retardation
and possibly autism as well." ...
Angelman syndrome deficits rescued in mice
... broadly, Weeber said, to other types of mental retardation
syndromes that remained unexplained and untreatable.
"There are a lot of mental retardation
syndromes that we still don't understand. Maybe ... syndrome could be implicated in other mental retardation
syndromes as well." ...
Severe mental retardation gene mutation identified
... a novel gene mutation that causes X-linked mental retardation
for which there was no previously known molecular ... the ZDHHC9 gene found in those with severe retardation
as being mutated to the point of entirely losing ... not have been predicted to play a role in mental retardation
based on the previous genetics work. It was found ...
Study ties 'new' cell-death mechanism to developmental and degenerative brain disorders
... that neurodevelopmental disorders such as mental retardation
and neurodegenerative disorders such as ... ataxia is a childhood-onset type, with mental retardation
and seizures in some individuals. With mental retardation
as one of the consequences, the KCNC3 potassium ...
Genetic therapy reverses nervous system damage in animal model of inherited human disease
... or AMD, an inherited disease in humans that causes severe mental retardation
and skeletal abnormalities. Cats with AMD do not live more than six ... that accounts for a significant portion of the instances of mental retardation
in children. Other examples include Tay-Sachs disease, Hunter disease and ...
Researchers discover gene crucial for nerve cell insulation
... Medicine, worked with colleagues Scott E. LeBlanc, and Rebecca M. Ward, to conduct the study. Dr. Svaren is an affiliate of NICHD-funded mental retardation
and developmental disabilities research center at the Waisman Center at the University of Wisconsin.
Until this discovery, researchers did not ...
How genetic malfunction causes a form of retardation
... Researchers have discovered that the genetic malfunction that causes a form of mental retardation
called Noonan Syndrome (NS) produces an imbalance in the genesis of two types of cells in the developing embryonic brain. This imbalance, they ...
Experimental vaccine given during pregnancy reduces stillbirths from common virus
... vaccine that reduces stillbirths among rodents born to mothers infected with cytomegalovirus (CMV)—a common virus that can also cause mental retardation
and hearing loss in newborn children who were infected in early fetal life.
Estimates place the number of U.S. children born with CMV each year at ...
Drug treatment improves learning in mice with Down syndrome symptoms, Stanford/Packard study shows
More than 300,000 people nationwide have Down syndrome, which is caused by an extra copy of chromosome 21. It is the leading cause of mental retardation
in the country, and it is also associated with childhood heart disease, leukemia and early onset Alzheimer’s disease. The researchers used a mouse ...
What controls stickiness of 'smart' chromosomal glue
... basic knowledge of the mechanism of cohesin loss during meiosis could ultimately improve understanding of the origins of miscarriages and mental retardation
due to mis-segregation of chromosomes.
"We first need to understand the key regulatory players and the molecular mechanisms that cause ...
NHGRI announces latest sequencing targets
... in the human genome. A number of diseases are known to be associated with mutations in segmental duplicated regions, including a form of mental retardation
and other neurological and birth defects.
Segmental duplications cover 5.3 percent of the human genome, significantly more than in ...
In a technical tour de force, Salk scientists take a global view of the epigenome
... therapeutic cloning purposes will likely involve remodeling methylation patterns to resemble those of stem cells. And disease states, ranging from retardation
to cancer, are marked by aberrant methylation: some carcinogens cause cancer by methylating the "wrong" genes, leading to uncontrolled growth.
Tiny RNA molecules fine-tune the brain's synapses
... information storage and computational capacity of the brain."
Greenberg also speculates that miR-134 may be relevant to disorders such as mental retardation
and autism. He notes that loss of Limk1 due to a chromosomal deletion is associated with Williams syndrome, and that the BDNF pathway that activates ...
Neurons find their place in the developing nervous system with the help of a sticky molecule
... often show severe defects in neuronal positioning and connectivity, which are clinically manifested in conditions such as hydrocephalus, mental retardation
and spastic paraplegia.
Whether mutations in MDGA1 lead to brain disorders remains to be seen. "Much work needs to be done, and the appropriate ...
Recreating 'Flowers for Algernon' with a happy ending
... with NF1. The findings could help the estimated 35 million Americans who struggle with learning disabilities.
"Learning disabilities and mental retardation
each affect five percent of the world population," said Dr. Alcino Silva, professor of neurobiology, psychiatry and psychology at the David Geffen ...