What does the KDM6A gene do?

The KDM6A gene provides instructions for making an enzyme called lysine-specific demethylase 6A that is found in many organs and tissues of the body. Lysine-specific demethylase 6A functions as a histone demethylase. Histone demethylases are enzymes that modify proteins called histones.

What is AML leukemia in adults?

Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. Leukemia may affect red blood cells, white blood cells, and platelets.

Where is KDM6A located?

the X chromosome
KDM6A Gene – Lysine Demethylase 6A This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3.

Is KDM6A a tumor suppressor?

A demethylating protein called KDM6A is a known tumor suppressor, and its function is often lost in bladder cancer as a result of inactivating mutations. There is no way to directly target the loss of the tumor suppressor, but Ler et al. found another strategy to effectively treat tumors with this mutation.

Does anyone survive acute myeloid leukemia?

The 5-year survival rate for people 20 and older with AML is 27%. For people younger than 20, the survival rate is 69%. However, survival depends on several factors, including biologic features of the disease and, in particular, a patient’s age (see Subtypes for more information).

Can you fully recover from AML?

Most often, acute myeloid leukemia (AML) will go into remission after the initial treatment. But sometimes it doesn’t go away completely, or it comes back (relapses) after a period of remission. If this happens, other treatments can be tried, as long as a person is healthy enough for them.

Is KDM6A a tumor suppressor in acute myeloid leukemia?

The data presented here extend these findings and show that KDM6A acts as a tumor suppressor and mediates drug resistance in AML. UTY, a catalytically inactive KDM6A homolog that is encoded on the Y chromosome, was recently shown to suppress myeloid leukemogenesis in KDM6A -deficient male mice [ 19 ].

Why do cells with KDM6A mutations outgrow their clones during chemotherapy?

Our results show that loss of KDM6A provides cells with a selective advantage during chemotherapy, which ultimately leads to the observed outgrowth of clones with KDM6A mutations or reduced KDM6A expression at relapse. Acute myeloid leukemia (AML) is characterized by expansion of abnormal myeloid precursor cells in the bone marrow and blood.

What is the role of KDM6A?

KDM6A can facilitate gene activation through the catalytic JmjC domain and is also a component of the COMPASS-like complex, which is important for chromatin enhancer activation [ 7, 8, 9, 10, 11 ]. KDM6A is frequently targeted by somatic loss-of-function mutations in cancer [ 12, 13, 14, 15] including leukemia [ 16, 17, 18 ].

Does KDM6A loss contribute to increased chemo-resistance in AML?

We identified three AML patients harboring KDM6A mutations at diagnosis and observed an outgrowth of the KDM6A mutated population at relapse. These results are in agreement with our previous study [ 3] and suggest that KDM6A loss may contribute to increased chemo-resistance in AML.