Conclusions
Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.
Clinical, molecular, and pharmacological aspects of FMR1 related disorders
 
  Keywords
 
 
  
   Intellectual disability
  
 
 
  
   Fagile X mental retardation protein
  
 
 
  
   Autism spectrum disorders
  
 
 
  
   Ribonucleic acid-binding proteins
  
 
 
  
   Deoxyribonucleic acid methylation
  
 
Abstract
 Background
Fragile X syndrome, the most common inherited cause of <dis>intellectual disability</dis>, is associated with a broad spectrum of disorders across different generations of a single family.
This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene ( _FMR1_ ) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling.
Development
This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP.
FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation.
It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of _FMR1_ , which may cause neuronal toxicity.
These changes manifest clinically as developmental problems such as <dis>autism</dis> and <dis>learning disabilities</dis> as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS).
Conclusions
Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of <dis>neuropsychiatric disorders</dis>, and they will probably contribute to development of new and specific treatments.
Abstract
 Background
Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family.
This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene ( _FMR1_ ) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling.
Development
This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP.
FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation.
It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of _FMR1_ , which may cause neuronal toxicity.
These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS).
Conclusions
Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.
Conclusions
Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of <dis>neuropsychiatric disorders</dis>, and they will probably contribute to development of new and specific treatments.
neuropsychiatric disorders
DISABILITY