Research conducted by Keio University and Mie University has revealed that CHCHD2 protein in astrocytes within the cerebrospinal cord is associated with Muro disease (amyotrophic lateral sclerosis/Parkinsonian dementia complex: Kii ALS/PDC), which occurs frequently on the Kii Peninsula. It was found that there was a significant decrease.

 Muro disease is an incurable neurological disease that occurs frequently on the southern coast of the Kii Peninsula, which was once called Muro in Kii Province, and is characterized by amyotrophic lateral sclerosis, Parkinson's symptoms, and dementia. The cause of the frequent occurrence of this disease is still not clear.

 This research group established iPS cells from blood cells of Kii ALS/PDC patients and induced them to differentiate into astrocytes, a type of glial cell in the cerebrospinal cord. Muo's disease causes abnormalities in various nerve cells and glial cells in the cerebrum and spinal cord, so astrocytes distributed throughout the brain and spinal cord are suspected to be involved.

 When they analyzed the patient's astrocytes, they found that the expression of the gene encoding CHCHD2, a protein important for mitochondrial function, was significantly reduced. As a result, they found that the neuroprotective function of astrocytes was reduced, with mitochondria reduced and morphologically abnormal. In addition, the researchers found that astrocytes in actual patient brains had a decrease in CHCHD2 protein, similar to iPS cell-derived astrocytes.

 On the other hand, they also discovered that the function of patient astrocytes could be improved by restoring CHCHD2 expression using mitochondrial function-improving drugs or gene transfer.

 From the above, it has become clear that the patient iPS cell model can reproduce the pathological conditions occurring in the patient's brain, and it can be said that the usefulness of disease-specific iPS cells has been demonstrated. The treatment method for mitochondria that has been shown to be effective in iPS cell-derived astrocytes is also an important finding that will lead to iPS cell drug discovery. The results of this research are expected to significantly accelerate research aimed at elucidating the pathogenesis and drug discovery of Muo disease, which has until now been shrouded in mystery as no disease model exists.

Paper information:[Acta Neuropathologica] Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes

Keio University
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