Gene link: A breakthrough by an Irish research team could have implications for the early diagnosis and treatment of the fatal neurological condition, Motor Neurone Disease (MND).
Researchers at the Royal College of Surgeons in Ireland (RCSI) and Dublin's Beaumont Hospital have discovered a link between the gene known as angiogenin and MND.
The research by Dr Orla Hardiman, consultant neurologist at Beaumont, and Dr Matt Greenway, research fellow at the RCSI, is to be published today in the US medical journal Neurology.
MND is a highly debilitating degenerative disease affecting the nerve cells in the brain and spinal cord. The condition causes progressive weakness and wasting of voluntary muscles and results in a life expectancy of three to five years.
Some 250 people in the Republic have MND.
Commenting on the significance of the research, Dr Hardiman said: "What we have found is another gene that causes MND. It is a very exciting discovery which will hopefully pave the way for new therapies in MND, a tragic condition which strikes people in the prime of their lives and progresses fairly rapidly to death."
The researchers had found significant mutations in the angiogenin gene in people with MND, she explained.
There are two possible hypotheses as to how it might cause the disease: one is that MND is a response to hypoxia (low oxygen) in vulnerable people; the other is that angiogenin normally produces a protective protein but that this protection is absent in people with a mutated form of the gene.
The breakthrough has already led to the development of an international research programme with Harvard Medical School, doctors in Britain and researchers at RCSI.
The programme will work on developing possible treatments for MND.