Researchers at Academia Sinica, the nation’s highest research institute, said yesterday they had found a possible cause for a progressive, fatal and incurable motor neuron disease.
The institute said that the cellular protein called TAR DNA binding protein 43 (TDP-43) may be one of the causes of amyotrophic lateral sclerosis (ALS).
James Shen (沈哲鯤), who led the research team, said a study done on mice found that problems or irregularities in unidentified genes led to a loss of function of TDP-43, which could be one of the things that trigger ALS.
ALS patients experience progressive muscle weakness, which eventually leads to loss of movement in voluntary muscles.
The finding is significant because TDP-43 is associated with nearly 86 percent of ALS cases worldwide. Prior to this finding, scientists had been unable to identify how the protein might play a role in causing ALS, said Wu Lien-szu (武蓮絲), who participated in the research.
Mutations in the gene that encodes the TDP-43 protein have also been identified in 4 percent of ALS patients with a family history of the disease, as well as in 1 percent of sporadic ALS cases, the institute said.
Although the research team is still far from finding a cure for the disease, Shen said, the next step is to identify which genes have become abnormal enough to cause the loss of function of TDP-43, thus leading to the dysfunction of motor neurons.
The study was published in the Journal of Biological Chemistry in June.