News Releases & Research Results Large-scale international analysis on the causative gene of severe cardiomyopathy in newborns - Early diagnosis and development of therapies of cardiomyopathy -

The results of collaborative research conducted by Director Kei Murayama of the Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital; Professor Yasushi Okazaki of the Intractable Disease Research Center, Graduate School of Medicine, Juntendo University; and Professor Akira Ohtake of the Department of Pediatrics, Saitama Medical University.

• Genomic analysis was conducted in the neonatal cases of severe mitochondrial cardiomyopathy (*) in Japan, revealing the involvement of duplications in the ATAD3 locus.
  *A myocardial abnormality caused by mitochondrial dysfunction, an incurable disease occurring in 1 in 5,000 births.
• A large-scale international analysis was conducted in collaboration with Australian and other institutes, revealing similar duplications in 16 families.
• The results of this research should facilitate the elucidation of the pathology of mitochondrial cardiomyopathy and the development of therapies.

This program 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 Med (Cell Press) on July 10.

Ann E. Frazier, et al. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus Med
DOI：10.1016/j.medj.2020.06.004