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Fragile X syndrome

Geoff Ferguson - October 25th 2018
Fragile X syndrome is a genetic condition that can cause a range of developmental problems. The condition is caused by a mutation in the FMR1 gene, which helps to regulate the production of the protein FMRP. This protein plays an important role in the development of synapses.

Some of the difficulties caused by this syndrome can be helped with therapy, special education and drugs, but the underlying condition cannot currently be cured. However, gene engineering may at some stage provide a way to restore the expression of the mutated gene and so better regulate the production of FMRP.

segment of dna

The presence of this FMR1 mutation can have a severe effect upon a child's development. Individuals with Fragile X syndrome usually experience delayed language development, and most males and about a third of females also have some intellectual disability. Autism or autistic-like features can be found in about a third of individuals with this condition. Anxiety, impulsivity and attention deficit disorder are also commonly present. In addition, the condition can lead to various physical problems, such as seizures, and is associated with some characteristic physical features.

At the moment most help for children with this syndrome takes the form of therapies and other support to enable them meet their fullest potential. This can include speech and other therapies, special educational support and support for the parents. Drug treatments are also used to reduce the impact of some associated symptoms, such as high levels of anxiety or ADHD. Anticonvulsants are also used where necessary to control seizures.

More recently the genetic engineering tool CRISPR has been used to restore production of the FMRP protein.1 The problematic mutation of the FMR1 gene is in the excessive replication of the three nucleotides, ‘CGG,’ at the start of the gene. For most people this pattern is repeated up to 54 times, but the Fragile X syndrome is usually associated with over 200 repetitions. Researchers worked with stem cells derived from a skin sample from someone who has over 450 CGG repetitions. They used a modified CRISPR to remove the chemical tags or methyl groups on these repeats. This enabled FMR1 expression to reach 90 percent of normal levels and FMRP yields of 73 percent.

There are many hurdles to be overcome before this form of genetic engineering is available to treat Fragile X syndrome, but this is one of the approaches to treatment that holds out some hope for a cure of the underlying condition. In the meantime, it is important that genetic testing is available for children who show early signs of concern. As with many developmental delays, early recognition and intervention brings the greatest possibility of helping the child to realise its greatest potential.

For more advice and information, visit the website of the Fragile X Society.

1 CRISPR tweak fixes genetic flaw in fragile X syndrome


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Welcome to ourNews, where we keep up-to-date with research and other news related to infant mental health. These articles can be of interest to both parents and professionals.
We are keen to know your views and so please do comment on our articles.
Is there a topic that you would like us to write about? Just send us a message via 'Contact us'.

ourAdvice, our other blog, has brief posts with advice for parents.

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