| 研究実績の概要 |
Previous reports suggest a toxic contribution of astrocytes in ALS and in PD.
We established an original protocol to efficiently generate iPSC-derived astrocytes. We used this protocol to decipher the Kii ALS/PDC, a rare and complex japanese neurological disorder with no genetic or environmental known etiology.
RNA sequencing revealed that Kii-iPasts exhibited abnormal mitochondrial cristae and metabolic alterations. We found CHCHD2, a mitochondria-related gene previously identified as PD-related, significantly downregulated in Kii-iPasts and in neuropathologic specimens of deceased donors. Lentiviral overexpression of CHCHD2 could partially rescue some of these defects, providing a promising therapeutic target for patients.
|
