A mutation in the TDP-43 gene has been linked to an inherited form of the neurodegenerative condition amyotrophic lateral sclerosis (ALS).

Previous studies have revealed abnormalities in the TDP-43 protein in both sporadic and inherited ALS.

Latest research by Washington University School of Medicine in St Louis is the first to establish a link with the TDP-43 gene and inherited disease.

Postdoctoral research associate Michael Gitcho found that every member of a family affected by an inherited form of ALS had a particular mutation in TDP-43.

Separate analysis of 1,505 people not related to the family and unaffected by ALS, showed no examples of the same mutation.

The study found that TDP-43 abnormalities in ALS patients included altered folding and phosphorylation, radically altering the protein's function.

Researchers are now working to introduce the mutated human TDP-43 gene they identified in the family into a transgenic mouse model, with the hope that the mouse will generate a model for ALS-like pathology.

"The potential link to sporadic ALS is particularly interesting. If we can confirm TDP-43's association with inherited ALS, mutating this gene may give us a way to model sporadic ALS in laboratory animals for the first time," senior author Nigel Cairns said.

"That could give us a potent tool for better understanding ALS and developing new treatments."

The study could also help further developments in treatments for neurodegenerative disorders, particularly given that abnormal TDP-43 has been found in patients with frontotemporal dementia.

The findings are published in the February 20th edition of Annals of Neurology.

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