Wednesday 31 May 2000
Embargoed 00.01 hrs Wednesday 31 May 2000
Scientists have identified a gene to solve the puzzle of a disfiguring disease which affects generations of the same family and can lead to sufferers having their scalps removed. The research is published in Nature Genetics, 1 June 2000.
The gene which predisposes families to the disease - known as cylindromatosis - was discovered because a patient suffering from the condition approached scientists and asked them to examine her family's genetic history.
Professor Mike Stratton of The Institute of Cancer Research who led the five-year study commented: "The identification of the gene is not only a major advance for families stricken with this terrible condition but has also given us new insights into the development of cancer."
Cylindromatosis causes large numbers of small tumours (or cylindromas) to occur on the skin of the head and neck. Some patients develop so many of these on the scalp that a mass of tumours occurs - the disease is sometimes referred to as 'turban tumour syndrome' for this reason.
In the majority of cases the tumours do not spread - but they can frequently become infected and ulcerated, resulting in severe disfigurement and discomfort. In the most serious cases, patients' scalps have to be removed and reconstructed using skin grafts.
The study was prompted by a Newcastle patient, Liz Spour, whose family had been affected by cylindromatosis for generations. She asked Professor John Burn at the Institute for Human Genetics if he would investigate why more than four generations of her family, including herself and her mother, had suffered from the disease.
Professor Burn said: "This is quite a remarkable case - it is rare that a study of this nature is prompted by patients themselves. Shortly after Liz first came forward, ten years ago, I was to be found in her front room taking blood samples from her entire family - it is through research that started with these samples that the gene was identified."
The discovery of the gene, known as CYLD, was made possible through information made publicly available by the Human Genome Project at the Wellcome Trust's Sanger Centre.
Professor Stratton, who now works jointly at The Institute of Cancer Research and the Sanger Centre, and is head of the Cancer Genome Project, said: "It would have been much more difficult to find CYLD without the wealth of DNA sequence information which has been made accessible on the web by the Human Genome Project. It is doubtful whether this gene would have now been identified had the relevant information been privatised. The discovery of CYLD is a model for future discoveries which will be possible only through making the human DNA sequence freely available."
The severe form of cylindromatosis is considered to be a rare condition but scientists believe that there may yet be other cases which exist in a mild form. It can be very prolific within families, with as many as twenty family members being affected - although for some individuals the gene remains latent. In the case of familial cylindromatosis, tumours start to appear in the teens and twenties and increase in size and number throughout the patient's adult life.
The mutated gene has surprised scientists by giving them new insights into how tumours form. When the CYLD gene is working normally it is 'switched on' and is responsible for preventing cylindroma tumours from forming.
However when the gene is mutated, or switched off, tumours are able to grow. The malfunctioning gene causes problems for the body's cellular 'rubbish collection' systems. All proteins to be collected as waste have a mechanism which 'labels' them as to whether they should be removed or otherwise. If the mechanism is not working properly, proteins are incorrectly removed and this may well be the problem with this disease.
The discovery of the gene opens the way to the development of new drugs to treat the disease. Potential drug trials for this condition could be relatively easily evaluated since cylindromas are sited externally.
Internationally, twenty families with the disease took part in this study. Two of these families were from the Newcastle area - but, surprisingly, despite originating only a few miles apart, it was discovered during the study that the two families are not related.
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Notes to Editors
- The condition is known as cylindromatosis because of the microscopic cylindrical form of the tumours.
- The Human Genome Project, based at the Sanger Centre near Cambridge, is being harnessed by British scientists in a ground-breaking approach to find the genes associated with all forms of cancer. The Cancer Genome Project is the first of its kind in the world, and was initiated by scientists at The Institute of Cancer Research, following an award by the Wellcome Trust of £10 million.
- The Imperial Cancer Research Fund provided funding for Professor Burn's genetic nurse.
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