12 September 2008

Diabetes gene breakthrough leads to insulin-free future for Niona

Presscall - 11am, Friday September 12th.
Clincial Research Centre,
James Arrott Drive, Ninewells
(best accessed from multi-storey car park)
Photo/interview opportunities with research team and Niona

33-year-old Niona MacDougall has been insulin-dependent for all but twelve weeks of her life after being diagnosed with diabetes as a baby. But now Niona, from Carnoustie, is able to live life without daily insulin injections after researchers at the University of Dundee recognised her as having a rare form of genetic diabetes that can be treated with tablets.

Niona’s diabetes is caused by a genetic defect uncovered by scientists in 2004. It can be effectively controlled by sulphonylurea tablets, removing the need for insulin injections and in almost all cases offering much better control of blood sugar levels.

The treatment only works for patients like Niona who were diagnosed with diabetes when they were infants, usually younger than six months, and have genetic diabetes. It does not work for the vast majority of diabetes sufferers, those who have Type 1 or Type 2 diabetes.

Now people all over the UK may benefit from a similar treatment, one which Niona says has literally changed her life.

'Life now is easier, more comfortable and just generally happier,' said Niona. 'I just generally feel a lot better and my diabetes is under much better control now. Since coming off insulin I’ve also lost over a stone in weight, which is great as well!'

Niona’s mum Mary has seen a great change in Niona, after spending the past 33 years wondering whether a cure or better treatments for her daughter’s diabetes would ever come.

'When Niona was born, the doctors and nurses at the time said to me she was so young that something would be found that would make her better,' said Mrs MacDougall. 'Well after all this time you start to wonder whether that will ever happen, but now it has. It is absolutely wonderful.'

'The difference it has made for Niona is fantastic. We are all a lot more comfortable now coping with her diabetes.'

Jayne Cameron, a diabetes specialist nurse with NHS Tayside, has known Niona since 2002 and has seen the difference the new treatment has made to her.

'When I first met Niona in 2002 she struggled to control her diabetes- she had frequent low blood sugars and it was a constant battle for her to balance her diabetes and her weight,' said Jayne, 'It was obvious that the whole family's life circulated around Niona's diabetes.'

'Working with her recently has been a really uplifting experience and will go down as one of the most memorable events in my career. When we first started the process of decreasing the insulin and adding in the tablets, Niona was very excited, but anxious as well- as the tablets were increased and the insulin was reduced, she just got happier and happier.'

Dr Ewan Pearson, of the University of Dundee, worked on the initial project which in 2004 identified the gene fault which causes this rare form of diabetes. This was followed by the discovery that it can be treated with sulphonylurea, a standard diabetes tablet which is normally used to treat type 2 diabetes, albeit without the same dramatic effects.

Dr Pearson is delighted that this breakthrough has led to treatments being delivered to patients like Niona so quickly.

'The tablets offer an extremely effective treatment for Niona’s diabetes - for the majority of patients with this kind of diabetes it will actually result in them becoming non-diabetic.' said Dr Pearson, Senior Lecturer in the Biomedical Research Institute at the University Medical School and Consultant Physician at Ninewells Hospital.

He is hoping other patients around the UK will soon benefit from the same treatment.

'If someone has been diagnosed with diabetes in the first 6 months after birth then there is a fairly strong chance they will have this form of the disease,' he said.

'I am sure there are other people in Scotland and the rest of the UK who, like Niona, have diabetes that developed at a very young age. Whatever their current age now anyone diagnosed with diabetes under the age of one should speak to their diabetes team to discuss having a simple genetic test as it might be possible to treat their diabetes differently.'

Dr Pearson stressed that while the treatment did not work for patients with the far more common Type 1 and Type 2 diabetes, it did show scientists were making strides in gaining a greater understanding of the disease.

'This is a completely separate thing from those more common types of diabetes,' said Dr Pearson.

'However, what I would say is that this offers encouragement that we are improving our understanding of diabetes. We are chipping away at the face of it and making advances all the time that should help us better manage and treat diabetes.'

It was a study led by Prof. Andrew Hattersley of the Peninsula Medical School in the UK which originally identified sulphonylurea as a treatment for patients with diabetes caused by a defect in the Kir6.2 gene. More information on this type of diabetes can be found at www.diabetesgenes.org.

For media enquiries contact:
Roddy Isles
Head, Press Office
University of Dundee
Nethergate Dundee, DD1 4HN
TEL: 01382 384910
E-MAIL: r.isles@dundee.ac.uk