Researchers say they may have found new clues about the diagnosis and treatment of motor neurone disease, the disease that affects astrophysicist Professor Stephen Hawking.
Swedish and Polish researchers worked together to trawl samples of blood plasma to identify chemical markers linked to the disease, also known as amyotrophic lateral sclerosis.
They found three proteins linked to the disease – and believe they can explain at least part of their role.
The study involved some 367 Polish patients from the Medical University of Warsaw compared with some 101 healthy people. It has been reported in the Annals of Clinical and Translational Neurology.
One protein NEFM may indicate nerve fibre death as it is a structural component of neurons, the researchers say.
A second protein, RGS18, is involved in cell signalling and may be leaking from degenerating muscles, the researchers say.
The third substance, SLC25A20, is a mitochondrial protein, already linked to the disease.
Researchers say further studies will need to identify how closely these chemicals are linked to ALS – or whether they are typical of neurodegenerative diseases.
Researcher Anna Häggmark, from KTH Royal Institute of Technology, Sweden, said: "As far as we know it’s the most extensive plasma profiling study published within ALS, in terms of numbers of patients included."
Annals of Clinical and Translational Neurology August 2014; Volume 1, Issue 8, pages 544–553; doi: 10.1002/acn3.83
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