Cholesterol imbalance linked to Motor neurone disease, suggests study

UK:Motor neuron diseases (MNDs) are a large genetically and clinically heterogeneous group of incurable neurological diseases characterized by the progressive degeneration of upper and/or lower motor neurons.

The researchers at the University of Exeter seems to have discovered a possible underlying cause of motor neurone disease (MND). According to the study, published in Brain: A Journal of Neurology, defects within the two specific lipid (cholesterol/oxysterol and phosphatidylethanolamine) biosynthetic cascades is centrally involved in MND, particularly hereditary spastic paraplegia -- where the malfunction is in the upper part of the spinal cord. This could lead to more accurate diagnosis and new treatments.

Motor neurone disease is a fatal neurodegenerative diseases that attack the motor neurones in the brain and spinal cord. The motor neurones are nerves in the brain and spinal cord that control the muscles used for gripping, walking, moving, speaking, swallowing and breathing. In MND the motor neurones gradually stop working properly, so their messages do not get through to the muscles. This means that MND affects how you grip, walk, move, speak, swallow and breathe.

There is no cure and the exact causes are unclear - it's been variously linked to genes, exposure to heavy metals and agricultural pollution.

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While mutations in a large number of molecules associated with lipid metabolism are known to be implicated in MNDs, there remains a lack of clarity regarding the key functional pathways involved, and their inter-relationships. Andrew H Crosby, University of Exeter, Exeter, UK, and colleagues found that 13 genes -- which if altered, can cause the condition -- were directly involved in processing cholesterol.

Dr Emma Baple, also from the University of Exeter Medical School, said: "Currently, there are no treatments available that can reverse or prevent progression of this group of disorders. Patients who are at high risk of motor neurone disease really want to know how their disease may progress and the age at which symptoms may develop, but that's very difficult to predict."

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"Further exploration of this mechanism has the potential to identify new therapeutic targets and management strategies for modulation of disease progression in hereditary spastic paraplegias and other MNDs," concluded the authors.

The study, "Lipid metabolic pathways converge in motor neuron degenerative diseases," is published in Brain: A Journal of Neurology.

DOI: https://doi.org/10.1093/brain/awz382