Scientists at the Gladstone Institutes have deciphered how a protein called Arc regulates the activity of neurons—providing much-needed clues into the brain's ability to form long-lasting memories. These ...
4.9 / 5 (7) |
0
|
(Medical Xpress)—The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and ...
5 / 5 (6) |
2
|
The most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists at Washington University School of Medicine in St. Louis report.
4.8 / 5 (4) |
1
|
Autistic-like behaviors can be partially remedied by normalizing excessive levels of protein synthesis in the brain, a team of researchers has found in a study of laboratory mice. The findings, which appear in the latest ...
4.5 / 5 (8) |
0
|
Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
4 / 5 (4) |
0
|
American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.
4.3 / 5 (4) |
1
|
An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery ...
4.7 / 5 (3) |
0
|
A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein ...
not rated yet |
0
|
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
4.3 / 5 (3) |
2
|
Clumsy fruit flies with poor posture are helping an international team of scientists understand inherited intellectual disability in humans – and vice versa.
5 / 5 (1) |
1
|
Just like human teenagers, fruit flies that spend a day buzzing around the "fly mall" with their companions need more sleep. That's because the environment makes their brain circuits grow dense new synapses and they need ...
5 / 5 (4) |
0
|
University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into ...
5 / 5 (3) |
0
|
A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.
5 / 5 (1) |
0
|
Minocycline, an older, broad-spectrum antibiotic in the tetracycline family, provides meaningful improvements as a therapeutic for children with fragile X syndrome, a study by researchers at the UC Davis MIND Institute has ...
5 / 5 (2) |
0
|
A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
5 / 5 (2) |
0
|
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and larger testes (macroorchidism), behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counselling.
There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimising functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualised educational and behavioural programs.
J. Purdon Martin and Julia Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Herbert Lubs first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
This text uses material from Wikipedia licensed under CC BY-SA
Study shows cultural images may hinder proficiency in second language skills
(Medical Xpress)—A team of combined researchers from Columbia Business School and Singapore Management University has found that people who have learned a second language become less proficient at speaking ...
Inside each of us is our own internal timing device. It drives everything from sleep cycles to metabolism, but the inner-workings of this so-called "circadian clock" are complex, and the molecular processes behind it have ...
The discerning fruit fly: Linking brain-cell activity and behavior in smell recognition
Behind the common expression "you can't compare apples to oranges" lies a fundamental question of neuroscience: How does the brain recognize that apples and oranges are different? A group of neuroscientists ...
Recent research has shown that cancer cells have a much different – and more complex – metabolism than normal cells. Now, scientists at The University of Texas at Dallas have found that exploiting these differences might ...
Researchers have discovered and mapped the signaling network between two previously unconnected proteins, exposing a link that, if broken, could cut off cancer cell growth at its starting point.
Men who lose sleep during the work week may be able to lower their risk of developing Type 2 diabetes by getting more hours of sleep, according to Los Angeles Biomedical Research Institute (LA BioMed) research findings presented ...
Aspirin is known to lower risk for some cancers, and a new study led by a UC San Francisco scientist points to a possible explanation, with the discovery that aspirin slows the accumulation of DNA mutations in abnormal cells ...
Balancing act: Mitochondrial protein coordinates a little-known enzyme that controls how fat is stored or burned
(Medical Xpress)—Calories in, calories out. Any dieter is familiar with the two sides of the equation for weight loss, usually reduced to eating less and exercising more. But what controls the body's balance ...
The rhythm of everything
Dawn triggers basic biological changes in the waking human body. As the sun rises, so does heart rate, blood pressure and body temperature. The liver, the kidneys and many natural processes also begin shifting ...
The link between genes and cancer
(Medical Xpress)—When people think about genes and their relationship to cancer, most probably think about a person's hereditary cancer risk, especially after Angelina Jolie's recent news about her inherited ...
