News Releases & Research Results To elucidate leukemia development mechanisms particular to the Japanese - Results of utilizing the BioBank Japan database -

The results of international collaborative research conducted by Team Leader Chikashi Terao Senior Visiting Scientist Yoichiro Kamatani and others of Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Brigham and Women’s Hospital, and Harvard University.

• DNA microarray data from approximately 180,000 Japanese participants in the “BioBank Japan” cohort were analyzed. Accordingly, somatic mosaic* indicating the presence of acquired DNA mutations were successfully detected in data that have been conventionally used only for identifying congenital mutations.
  *: A mixture of somatic cells that do not have the mutation and somatic cells that have the mutation, caused by acquired mutation.
• The genetic polymorphisms related to the appearance of somatic mosaic were identified, and their molecular mechanism was clarified. In addition, it was discovered that age-related DNA mutations and the appearance of somatic mosaic are almost inevitable, and somatic mosaic affects leukemia and other canceration mechanisms.
• The results of this research should lead to the further elucidation of aging and canceration mechanisms, including the mechanism particular to Japanese individuals, and the development of clinical medicine that enables prediction of life prognosis.

This research project was conducted with the support of the Tailor-made Medical Treatment Program by AMED.

The results of research were published online in Nature on June 25.

Terao C., et al. Chromosomal alterations among age-related hematopoietic clones in Japan Nature
DOI: 10.1038/s41586-020-2426-2