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What role does FMRP play in synaptic plasticity?
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FMRP regulates long-term potentiation and depression, critical for synaptic plasticity.
What are some common symptoms of Fragile X Syndrome?
Intellectual disability, learning disabilities, attention disorders, hyperactivity, social anxiety, repetitive behaviors, and delayed speech.
How does the imbalance of excitatory and inhibitory activity manifest in Fragile X Syndrome?
The disrupted balance results in a susceptibility to seizures due to excess excitatory activity from non-functional GABAergic synapses.
What physical traits might indicate the need for genetic testing for Fragile X Syndrome?
Traits include a long face, large ears, and a prominent forehead and jaw ridge.
Why is a family history important in diagnosing Fragile X Syndrome?
Family history is significant because Fragile X Syndrome is a genetic disorder, and knowing the genetic background can help in diagnosis and management.
How does the methylation of CGG repeats affect the FMR1 gene?
Methylation leads to heterochromatinization and gene silencing, making FMRP non-functional.
What are some current therapeutic approaches for Fragile X Syndrome?
Symptom management including speech and language therapy, genetic counseling, supportive medications (SSRIs, dopamine agonists), and ongoing trials focusing on GABA agonists.
What brain structural abnormalities are often observed in individuals with Fragile X Syndrome?
Common abnormalities include larger brain size, dilated ventricles, and an enlarged caudate nucleus in the basal ganglia.
How does the FMR1 mutation affect the production of FMRP?
The mutation leads to lack of production of Fragile X mental retardation protein (FMRP), crucial for normal brain activity.
Describe three physical characteristics common in individuals with Fragile X Syndrome.
A long face, abnormally large ears, and a prominent jaw and forehead.
What is the normal range for CGG repeats in the FMR1 gene, and what constitutes a full mutation?
Normal: 5 to 44 CGG repeats; Full mutation: more than 200 CGG repeats.
What neuronal changes are observed in FMR1 knockout neurons?
They exhibit immature, dysmorphic synapses compared to mature synapses with mushroom spines in normal neurons.
Why are males more affected by Fragile X Syndrome than females?
Fragile X Syndrome is an X-linked genetic disorder, and males have only one X chromosome, making them more affected.
What is the genetic cause of Fragile X Syndrome?
A mutation in the FMR1 gene on the X chromosome.
What is the significance of LIMK1 and cofilin in the context of Fragile X Syndrome?
Proper balance of LIMK1 and cofilin is important for actin polymerization and dendritic formation; altered FMRP affects this balance.
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