Mr. Yamazaki (Tokyo University of Science)、The research results of Mr. Kakegawa (Gakushuin University) while he was a member of the Yuzaki laboratory are、Molecular Therapy .。
In this study、Two families with hereditary cerebellar ataxia caused by mutations in the CBLN1 gene, which plays an important role in synapse formation, were discovered.。further、We created mice with the same genetic mutation as the patient.、Abnormalities in CBLN1 impair synapse formation and function.、We have clarified the mechanism that causes cerebellar ataxia.。What is especially important is、The therapeutic effect was also obtained in adult mice that had already developed cerebellar ataxia.。By introducing the normal CBLN1 gene into cerebellar glial cells using an AAV vector,、Reduced synapses recover、It was also shown that the symptoms of cerebellar ataxia were significantly improved.。
This research、In addition to uncovering a new cause of hereditary cerebellar ataxia that was previously unknown.、This study demonstrates the possibility of improving neurological symptoms by rebuilding synapses even after the onset of symptoms.。It is expected that this will lead to the development of gene therapy for hereditary cerebellar ataxia in the future.。

09/16/2026 9:44 AM | What's New