Hope over degenerative illness diagnosis

Research led by a scientist at Trinity College Dublin could pave the way for new treatments and early diagnoses of age-related degenerative illnesses such as Motor Neurone Disease (MND).

The research, supported by Science Foundation Ireland, synthesises years of findings and field observations by professor of neurogenetics at Trinity, Mani Ramaswami, and two other scientists in the United States.

Prof Ramaswami said a key step in the expression of genetic information in brain cells and other cells involves the assembly of small particles called mRNP assemblies.

He said that brain cells (neurons) of patients with neurodegenerative disease, have pathological deposits termed “inclusion bodies” and, although these are highly variable, they have now found a noticeable similarity to endogenous mRNP assemblies.


The researchers propose that many people may be particularly susceptible to neurodegenerative disease because they have genetic mutations, or have suffered conditions that cause abnormally high rates of formation of these neuronal mRNP assemblies.

Prof Ramaswami added that this affects the elderly because it occurs naturally in their brains. He said it also affects neurons because they live longer than any other cell type in our bodies.

The researchers believe their findings offer new opportunities for early diagnosis of age-related degenerative diseases before symptoms appear, which includes identifying disease causing genes.

Nearly 120,000 cases of MND are diagnosed worldwide each year with about 300 people in Ireland living with the disease at any one time.

Last month RTÉ broadcaster Colm Murray died from the disease after participating in an unsuccessful drugs trial at Beaumont. Dexpramipexole had positive results in animals but did not translate to humans.

The new research, published in the academic journal Cell, also suggests specific strategies for developing treatments which might have preventative and therapeutic benefits.

Prof Ramaswami said that diseases like MND are poorly understood, largely untreatable and can leave people unable to do everyday things that most take for granted.

“These age-associated diseases have far-reaching socio-economic impacts. If you can predict the disease you may be in a position to slow down its onset and progression through therapeutic interventions,” he said. “With these types of diseases this is significantly more effective than trying to treat the condition once symptoms have appeared.

“The potential for early diagnosis and delaying the onset of motor or cognitive decline by perhaps 10 years is of potentially profound importance in an ageing society.”