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Neurofibromatosis type 2: finding new treatments for young people with this rare and disabling disease

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What did the project achieve?

“We have uncovered evidence that certain virus proteins are involved in the development of nervous system tumours in children with neurofibromatosis type 2,” says Dr Sylwia Ammoun of the University of Plymouth. “This important discovery has led us to explore existing anti-viral drugs as a potential new way to treat the condition, some of which are showing promising results in our initial laboratory tests.”

Neurofibromatosis type 2 (NF2) is a rare genetic condition that is often diagnosed in children and young adults and causes multiple benign tumours of the nervous system. Children with NF2 are usually treated with surgery, but this is not always effective and so new drug treatments are urgently needed.

Scientists have identified that NF2 is caused by faults in a gene that provides instructions for making a protein known as Merlin, which usually protects cells from becoming cancerous. But Dr Ammoun and her co-applicant Dr Robert Belshaw, are exploring another potentially important angle – the role of certain viruses, called retroviruses, which inserted copies of their genetic material into the human genome many millions of years ago.

“Usually, these genetic remains of the retroviruses are inactive and don’t cause any problems – but we have found that copies of certain viral sequences are reactivated in NF2 tumours, meaning that viral proteins begin to be made,” says Dr Ammoun. “We found that particular virus proteins are active in two kinds of brain tumours in children with NF2, suggesting that this may contribute to their growth.”

This link has revealed a potentially exciting new strategy for treating NF2 tumours –using anti-retroviral drugs that are already prescribed to combat the human immunodeficiency virus (HIV), which is a retrovirus.

“We tested three anti-HIV drugs on tumour cells taken from NF2 patients, showing that these drugs were effective at reducing their growth in the laboratory,” says Dr Ammoun. “Due to these promising results, we hope to take these into clinical trials involving NF2 patients in the near future – and as their dosage and safety is already established, we hope this will speed up this process.”

This research was completed on

Around one in 35,000 people has a rare genetic illness called neurofibromatosis type two (NF2), which tends to be diagnosed during childhood and early adulthood.1 People with NF2 develop multiple benign tumours in the nervous system. Although they’re not cancerous, these tumours can cause distressing symptoms including hearing loss, speech impairment, balance problems and paralysis. Dr Sylwia Ammoun, of Plymouth University, has discovered an interesting feature of NF2 tumours which indicates that it may be possible to treat them using existing drugs. She is investigating this further in the hope of developing a much-needed new treatment for people with NF2.

How are children’s lives affected now?

Around 40 people – mostly teenagers and young adults – are diagnosed with NF2 each year in England, where around 860 people in total are living with the condition.1

People with NF2 develop multiple tumours of the nervous system. Some patients may have as many as 20–30 tumours altogether.2

“Intracranial tumours (inside the head) cause hearing loss, tinnitus and unsteadiness,” says Dr Ammoun. “Facial pain and paralysis, speech and swallowing problems are also common. Spinal tumours manifest with back pain and often paralysis. People with NF2 can also develop cataracts leading to blindness and tumours beneath the skin, as well as life threatening complications due to tumour pressure on the brain stem and blood vessels.”

Earlier diagnosis and care in specialist centres are improving the outlook for young people with NF2. Sadly, though, symptoms still tend to get worse over time and life expectancy can be reduced. Better ways to tackle this disabling condition are needed urgently.

How could this research help?

The researchers are searching for new drug treatments for NF2.

People with NF2 have changes – or mutations – in the DNA sequence that makes up a particular gene. These changes can be inherited or can appear by chance before birth. They mean that people with NF2 cannot produce a protein called Merlin, which normally suppresses the development of tumours.

While studying tumour cells donated by people with NF2, the researchers have made an exciting discovery. “We’ve found that certain sequences of DNA, which originally came from viruses that have inserted themselves into our chromosomes over millions of years and are normally inactive, become active within NF2 tumour cells,” says Dr Ammoun. “We think the unusual activity of this DNA may cause NF2 tumour cells to grow. We have shown that some drugs, which are used to treat viral infections, seem to block the action of this DNA and slow down the growth of tumour cells. We are investigating this further to see if we can develop a much-needed new drug treatment for people with NF2.”


1. The Neuro Foundation. What is neurofibromatosis? NF Type 2. http://www.nfauk.org/what-is-neurofibromatosis/nf-type-2/ Website accessed 30 July 2016.

2. The Neuro Foundation. Latest NF2 Research. http://www.nfauk.org/what-is-neurofibromatosis/nf-type-2/latest-nf2-research/ Website accessed 30 July 2016.




Project Leader Dr Sylwia Ammoun BScs MSc PhD
Project Team Dr Robert Belshaw BSc MSc PhD
Project Location Biomedical Research - Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry
Project Location Other School of Biomedical and Healthcare Sciences, Plymouth University Peninsula Schools of Medicine and Dentistry
Project duration 2 years
Date awarded 21 July 2016
Project start date 1 September 2016
Project end date 31 August 2018
Grant amount £65,061
Grant code GN2484


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