Promyelocytic leukemia protein

Promyelocytic leukemia protein (PML) is a protein that in humans is encoded by the PML gene. This protein is a crucial component in the formation of nuclear bodies and plays a significant role in apoptosis, cell proliferation, and tumor suppression.

Function[edit | edit source]

The PML protein is involved in multiple cellular processes, including cell cycle regulation, DNA repair, and apoptosis. It is a key component of PML nuclear bodies, which are subnuclear structures that also contain other proteins such as SP100, DAXX, and SUMO proteins. These nuclear bodies are thought to be involved in a variety of cellular processes, including gene transcription, DNA repair, and protein degradation.

Clinical significance[edit | edit source]

Mutations in the PML gene are associated with acute promyelocytic leukemia (APL). In APL, the PML gene on chromosome 15 is fused to the RARA gene on chromosome 17, resulting in a PML-RARA fusion gene. This fusion gene encodes a chimeric protein that disrupts the function of both PML and retinoic acid receptor alpha (RARA), leading to the development of leukemia.

Research[edit | edit source]

Research into the PML protein has provided insights into its role in tumor suppression and its potential as a therapeutic target in cancer treatment. Studies have shown that PML can suppress tumor growth by promoting apoptosis and inhibiting cell proliferation. Furthermore, the PML-RARA fusion protein has been shown to be a target for all-trans retinoic acid (ATRA), a drug used in the treatment of APL.