New Gene Linked To Fragile X Syndrome -- Suggests Potential Targets For Autism And Other Neurological Disorders
ScienceDaily (2008) — Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders. click here to read full article at sciencedaily
genetic disease and fragile x syndrome
Fragile x syndrome is caused alteration of the FMR1 gene located on chromosome X.
Males have one X chromosome and one Y, in women has two copies of chromosome X, the disease occurs only when both copies of the gene is altered , in women homozygous recessive. Women who have a healthy gene on one X and one altered on X are called heterozygous not develop symptoms and are healthy carriers, because they can still transmit the mutation to their children. The name of the disease stems from the fact that the X chromosome has a characteristic shrinkage.
Males have one X chromosome and one Y, in women has two copies of chromosome X, the disease occurs only when both copies of the gene is altered , in women homozygous recessive. Women who have a healthy gene on one X and one altered on X are called heterozygous not develop symptoms and are healthy carriers, because they can still transmit the mutation to their children. The name of the disease stems from the fact that the X chromosome has a characteristic shrinkage.
fragile x syndrome genetic disease
Fragile X syndrome genetic disease characterized by mental retardation in a more or less serious delays in the development of language and behavior disorders. With an incidence of 1 in 1200 males and 1 in 2000 females, is the most frequent cause of mental retardation after Down syndrome.
human genetic diseases caused by mutations
Fragile X syndrome (or syndrome Martin Bell) is a human genetic disease caused by mutation of the FMR1 gene on the X chromosome, this mutation in a male over in 4000 and a female at 6000. About 1 in 256 women are carriers of Fragile-X and can transmit it to their children. About 1 in 800 males are carriers of Fragile-X; their daughters will, in turn, carry the gene. It accounts with Down syndrome primacy as the most common genetic cause of mental retardation.
Normally, the FMR1 gene contains between 6 and 53 repeats of CGG codon (repetition of trinucleotidi). In individuals suffering from Fragile X syndrome, the FMR1 allele has more than 230 repetizioni of this codon. This level of expansion causes the methylation of cytosine in the promoter of the FMR1 gene, thus silencing the expression of the FMR1 gene. The methylation of the locus FMR1, which is located on chromosome band Xq27.3, causing at that point, the constriction and the fragility of the X chromosome, a phenomenon that gives its name to the syndrome.
Males with a FMR1 gene with a significant expansion of the CGG triplet with the symptoms of the disease, since you normally have only one copy of chromosome X. Females, by contrast, have two copies of chromosome X and therefore have a chance to own at least twice a functional allele. The women with an expanded FMR1 gene on one of the two X chromosomes may show some symptoms of the disease or be normal (Figure right on all'ereditarietà linked recessive X chromosome does not correspond exactly to the case of Fragile X syndrome , But it exemplifies the situation).
Apart from the mental retardation of varying degrees from moderate to severe, other obvious features of the syndrome are elongated face, large ears, large testicles (macrorchidismo), and low muscle tone. Behavioral characteristics may include stereotypical movements (for example, beat their hands) and atypical social development, particularly shyness and limited eye contact situations. Some individuals suffering from Fragile X syndrome are also in the diagnostic criteria of autism.
The mutation and methylation of the FMR1 gene leads to the abolition of production of the protein for which the FMR1 gene encoding, that FMRP (fragile-X mental retardation protein). FMRP is a protein binding to RNA (RNA-binding protein) expressed mainly in the testicles and brain tissues most affected by the syndrome. FMRP RNA is associated with major messengers coding neural protein, and regulates some essential aspects, such as transportation along the dendriti to the synapses and the translation into proteins. In the absence of FMRP, many of the target RNA messengers of the protein are more deregulated and are translated into protein. There are also new molecular functions of protein, such as adjusting the stability of messenger RNA.
Although there is still no cure for the syndrome, there is hope that a better understanding of its causes may lead to new therapies. Currently, the syndrome can be treated through behavioral therapy, special education, and when necessary, treatment of physical abnormalities. We advise people who have relatives suffering from Fragile X syndrome to contact the geneticists to assess the probability of having sick children, and to know the seriousness of the problems that may have affected the descendants of the syndrome.
Normally, the FMR1 gene contains between 6 and 53 repeats of CGG codon (repetition of trinucleotidi). In individuals suffering from Fragile X syndrome, the FMR1 allele has more than 230 repetizioni of this codon. This level of expansion causes the methylation of cytosine in the promoter of the FMR1 gene, thus silencing the expression of the FMR1 gene. The methylation of the locus FMR1, which is located on chromosome band Xq27.3, causing at that point, the constriction and the fragility of the X chromosome, a phenomenon that gives its name to the syndrome.
Males with a FMR1 gene with a significant expansion of the CGG triplet with the symptoms of the disease, since you normally have only one copy of chromosome X. Females, by contrast, have two copies of chromosome X and therefore have a chance to own at least twice a functional allele. The women with an expanded FMR1 gene on one of the two X chromosomes may show some symptoms of the disease or be normal (Figure right on all'ereditarietà linked recessive X chromosome does not correspond exactly to the case of Fragile X syndrome , But it exemplifies the situation).
Apart from the mental retardation of varying degrees from moderate to severe, other obvious features of the syndrome are elongated face, large ears, large testicles (macrorchidismo), and low muscle tone. Behavioral characteristics may include stereotypical movements (for example, beat their hands) and atypical social development, particularly shyness and limited eye contact situations. Some individuals suffering from Fragile X syndrome are also in the diagnostic criteria of autism.
The mutation and methylation of the FMR1 gene leads to the abolition of production of the protein for which the FMR1 gene encoding, that FMRP (fragile-X mental retardation protein). FMRP is a protein binding to RNA (RNA-binding protein) expressed mainly in the testicles and brain tissues most affected by the syndrome. FMRP RNA is associated with major messengers coding neural protein, and regulates some essential aspects, such as transportation along the dendriti to the synapses and the translation into proteins. In the absence of FMRP, many of the target RNA messengers of the protein are more deregulated and are translated into protein. There are also new molecular functions of protein, such as adjusting the stability of messenger RNA.
Although there is still no cure for the syndrome, there is hope that a better understanding of its causes may lead to new therapies. Currently, the syndrome can be treated through behavioral therapy, special education, and when necessary, treatment of physical abnormalities. We advise people who have relatives suffering from Fragile X syndrome to contact the geneticists to assess the probability of having sick children, and to know the seriousness of the problems that may have affected the descendants of the syndrome.
Fragile X syndrome
The fragile X syndrome is a syndrome is the leading cause of inherited mental retardation (second leading cause of mental retardation of genetic origin after trisomy 21)
6% of children with learning disorders are carriers of this syndrome. The disease does not malformation and children affected by the disease have normal growth.
The disease manifests itself mainly in boys mainly by delays in mental and behavioural disorders various up autism. The girls affected by this disease have a delay intellectual means.
The disease reached 12 000 people in France.
6% of children with learning disorders are carriers of this syndrome. The disease does not malformation and children affected by the disease have normal growth.
The disease manifests itself mainly in boys mainly by delays in mental and behavioural disorders various up autism. The girls affected by this disease have a delay intellectual means.
The disease reached 12 000 people in France.
Fragile X
Fragile x syndrome is a genetical disease. This blog about fragile x syndrome, and fragile pictures, fragile images, fragile videos, fragile x syndromes, fragile x medias, fragile x visual, fragile x disease, fragile x patients, fragile x cure, fragile x girls, fragile x syndrome boys
What is Fragile X Syndrome ?
Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
fragile X-associated premature ovarian failure (POF), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to keeping the Fragile X community well informed.
www.fragilex.org
Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
fragile X-associated premature ovarian failure (POF), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to keeping the Fragile X community well informed.
www.fragilex.org
What is Fragile X syndrome?
* Intelligence and learning – Many people with Fragile X have intellectual disabilities.
* Physical – Teens and adults with Fragile x may have long ears, faces, and jaws
* Social and Emotional – Most children with Fragile X have some behavior challenges
* Speech and Language – Most boys with Fragile X have some problems with speech and language.
* Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light.
* Physical – Teens and adults with Fragile x may have long ears, faces, and jaws
* Social and Emotional – Most children with Fragile X have some behavior challenges
* Speech and Language – Most boys with Fragile X have some problems with speech and language.
* Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light.
HOW IS FRAGILE X SYNDROME INHERITED?
The gene for Fragile X syndrome carried on the X chromosome. Because both males (XY) and females (XX) have at least one X chromosome, both can pass on the mutated gene to their children.If the mother has the altered gene for Fragile X she can pass that gene to either her sons or her daughters
If the mother has the mutated gene on one chromosome and has one normal X chromosome, and the father has no genetic mutations, all the children have a 50-50 change of inheriting the mutated gene.
TREATMENT OF FRAGILEX SYNDROME
Standart treatment includes specialeducation, speech, occupational, and sensory integration traning; and behavior modification program
TREATMENT OF FRAGILEX SYNDROME
Standart treatment includes specialeducation, speech, occupational, and sensory integration traning; and behavior modification program
DIAGNOSIS OF FRAGILE X SYNDROME
Fragile X syndrome was originally diagnosis by cultıring cells in a folete deficient medium and then assessing the cultures for X chromosome breakage by cytogenetic analysis of the long arm of the X chromosome also diagnosisFragile X syndrome is difficult to diagnose in children.
An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.
A blood test known as FMR1/DNA is used to confirm the diagnosis.
An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.
A blood test known as FMR1/DNA is used to confirm the diagnosis.
SYMPTOMS OF FRAGILE X SYNDROME
Some symptoms of fragile x syndrome below:
Larger ears
Large testes (macroorchidism)
Large jaw (prognathism)
The face is long and narrow
Speech delays
Prominent forehead
Larger ears
Large testes (macroorchidism)
Large jaw (prognathism)
The face is long and narrow
Speech delays
Prominent forehead
WHAT IS FRAGILE X SYNDROME?
Fragile X syndrome is the must common inherited from of mental retardation
It results from a chamge or mutation in a single gene
Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body cell especially in the brain, to developed and normally.
This syndrome is the second most common identifiable cause of genetic mental retardation after Down syndrome
It results from a chamge or mutation in a single gene
Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body cell especially in the brain, to developed and normally.
This syndrome is the second most common identifiable cause of genetic mental retardation after Down syndrome
CONTENT OF THIS BLOG
What is Fragile X syndrome?
Symptoms of Fragile X syndrome
Diagnosis of Fragile X syndrome
Treatment of Fragile X syndrome
How is Fragile X syndrome inherited?
Symptoms of Fragile X syndrome
Diagnosis of Fragile X syndrome
Treatment of Fragile X syndrome
How is Fragile X syndrome inherited?
CONTENT OF THIS BLOG
What is Fragile X syndrome?
Symptoms of Fragile X syndrome
Diagnosis OF This syndrome
Treatment of Fragile X syndrome
How is Fragile X syndrome inherited?
information about this syndrome ,
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