3 April 2000
An Action Research scientist has been successful in finding a key gene which is essential to the normal development of the human spine.
These findings, the work of Consultant Clinical Geneticist Dr Peter Turnpenny and his team based at the Royal Devon and Exeter Hospital, will be published in next week’s issue of `Nature Genetics’.
This discovery builds on the work carried out by the team, who last year mapped the gene and located it to chromosome 19. However, Dr Turnpenny then had the task of locating the specific gene within this chromosome region which could have been any one of 200.
Once the gene likely to cause the condition had been located Dr Turnpenny found mutations in three families affected by a severe spinal deformity known as Spondylocostal Dysostosis.
This genetically determined condition, which is present at birth, causes regular formation of the vertebral bodies to be severely disrupted, resulting in several abnormal curves in the spinal column, restricted movement and short stature.
Doctor Turnpenny said: ``This is a major success for the genetics team. It is the first identification of a new human disease gene that causes a major abnormality of the spine.’’
He added: ``In due course, we will understand a great deal more about both normal and abnormal human development from discoveries like this and maybe one day it will be possible to offer novel forms for treatment. In the meantime, work at the Royal Devon and Exeter Hospital will continue in an effort to located and isolate other genes involved in spinal development.’’
The research team are grateful for financial support for this work from Action Research, the British Scoliosis Research Fund, the Darlington Charitable Trust, the Skeletal Dysplasia Group and the R D and E Trust at the University of Exeter.