Jiji PressA team of Japanese researchers including Hirosaki University Prof. Etsuro Ito has discovered genes causing a type of leukemia mainly in children with Down syndrome.
The findings, published in Sunday’s edition of U.S. science journal Nature Genetics, may help in developing an effective drug for the genes, the team said.
About 5 percent to 10 percent of perinatal infants with Down syndrome have transient abnormal myelopoiesis (TAM), a disease that causes an abnormal rise in blood cells.
Though TAM is self-limiting in many cases, 20 percent to 30 percent of patients develop acute megakaryoblastic leukemia (AMKL), which can be fatal, within three years.
The team analyzed gene samples collected from 90 children with TAM or AMKL and found mutations in a gene related to blood cell proliferation in all of them. In 65 percent of the children with AMKL, mutations were found in a gene related to cohesin complex, a protein complex that plays a key role in cell division, the team said.
People with Down syndrome have three copies of chromosome 21, compared with the normal two.
TAM may occur as the result of interaction between the mutations in the blood cell proliferation-related gene and the abnormality in chromosome 21.