Overview

Amyotrophic lateral sclerosis (ALS) is an intractable neurological disease that causes progressive muscle weakness and muscle atrophy.

Characteristics

Pathologically, it is characterized by degeneration and cell death of motor neurons in the spinal cord and the accumulation of abnormal proteins.
Approximately 10% of ALS patients are familial, and mutations have been found in more than 30 responsible genes.
However, 90% of cases are sporadic with no family history.

Although there are symptomatic treatments such as riluzole and edaravone, which has the effect of protecting neurons by decreasing the release of glutamate, there is no curative treatment yet.
Possible pathological mechanisms are assumed to include impaired RNA metabolism, impaired proteolytic mechanisms, and mitochondrial dysfunction, etc.

Research status

Using iPS cells established from ALS patients, we have been studying the pathological mechanisms, for example, the reproduction of accumulated abnormal proteins such as TDP-43 and SOD1, cell death mechanisms, and the hyperexcitability of neurons.

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