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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|