New mutations of the ID1 gene in acute myeloid leukemia patients

• Main Authors: Chintana Tochareontanaphol, Thivaratana Sinthuwiwat, Borisuit Buathong, Thunyatip Thita, Somying Promso, Saowakon Paca-Uccaralertkun
• Other Authors: Chulabhorn Hospital
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/35606
• Institution: Mahidol University

© 2015 S. Karger AG, Basel. Objectives: Overexpression of the inhibitor of DNA binding 1 (ID1) protein is found in many types of cancer. In acute myeloid leukemia (AML), the expression of ID1 is induced by abnormal tyrosine kinases, such as FLT3 and BCR-ABL. High level expression of ID1 is associated with poor prognosis in young patients. We aimed to explore the ID1 mutation and its prognosis in AML patients. Methods: Two hundred and sixty-three AML patients were included. Cytogenetic results and ID1 mutation were compared. The ID1 gene was amplified by nested PCR, and the mutation was identified by direct sequencing. Results: Four new ID1 mutations (G40C, A124G, A230G, A349G) were identified in the normal karyotype patients. The A349G mutation, located in the nuclear export signal domain of the ID1 protein, was predicted by the in silico method as a damaged protein. Meanwhile, another new mutation, A290G, found in cases with 11q23 deletion, corresponded to the amino acid 97 in the helix 1 position of the ID1 protein. It could interfere with the dimerization of ID1 and EST-1, leading to a disruption of cell proliferation. Conclusions: In this study, we found 5 mutations in 260 AML patients. ID1 mutations were not commonly observed in AML. This may differ in other hematologic malignancies. Further studies in other types of hematologic malignancy will help to clarify the importance of ID1 mutations.