News Releases & Research Results Identification of novel disease-related gene mutations in inherited bone marrow failure syndrome with hematopoietic insufficiency, mental retardation, and short stature/microcephaly - Proposal of a new disease concept “AMeD syndrome” -

The results of the research project conducted by Lecturer Yasuyoshi Oka, Assistant Professor Motoharu Hamada (Nagoya University Hospital), Professor Yoshiyuki Takahashi, Professor Emeritus Seiji Kojima, and Professor Tomoo Ogi of the Research Institute of Environmental Medicine/Graduate School of Medicine, Nagoya University.

• Gene mutations responsible for AMeD syndrome, a hereditary disease of unknown cause, with hematopoietic insufficiency, mental retardation, and short stature and microcephaly, were successfully identified (simultaneous mutations in two aldehyde metabolism genes, ALDH2 and ADH5).
• Mice with a gene mutation corresponding to the pathogenic mutation identified in patients had a phenotype similar to the clinical symptoms of AMeD syndrome. Furthermore, the severity of the phenotype depended on the number of ALDH2 mutation alleles.

This project was conducted with the support of the Practical Research Project for Rare/Intractable Diseases by AMED.

The results of this research project were published in the American scientific journal Science Advances on December 19.

Kamata Y., et al. A robust culture system to generate neural progenitors with gliogenic competence from clinically relevant induced pluripotent stem cells for treatment of spinal cord injury STEM CELLS Translational Medicine
DOI: 10.1002/sctm.20-0269