KMT2D : lysine methyltransferase 2D
The KMT2D Gene: A Key Regulator of Gene Expression and Cancer Suppression
Description
The KMT2D gene, also known as MLL2, is a crucial gene that provides instructions for making the lysine-specific methyltransferase 2D enzyme. This enzyme is found in various organs and tissues throughout the body and plays a vital role in gene regulation and tumor suppression.
Lysine-Specific Methyltransferase 2D: A Histone Modifier
Lysine-specific methyltransferase 2D belongs to a family of enzymes called histone methyltransferases. Histones are proteins that bind to DNA and provide structural support for chromosomes. Histone methyltransferases, such as KMT2D, modify these histones by adding methyl groups, small chemical tags that influence gene expression.
Gene Activation and Development
KMT2D plays a significant role in activating certain genes that are essential for embryonic development. It does this by attaching methyl groups to specific lysine residues on histones, altering the chromatin structure and making the DNA more accessible for transcription factors.
Tumor Suppression
In addition to its role in gene regulation, KMT2D also acts as a tumor suppressor. Tumor suppressors are genes that help prevent uncontrolled cell growth and division. KMT2D functions by modulating the expression of genes involved in cell cycle regulation and DNA repair. Mutations in this gene can lead to the development of certain types of cancer.
Associated Diseases
Mutations in the KMT2D gene have been linked to various human diseases, including:
- Acute myeloid leukemia (AML): Loss-of-function mutations in KMT2D are associated with a subtype of AML known as MLL2-rearranged AML.
- Myelodysplastic syndrome (MDS): Mutations in KMT2D can also contribute to the development of MDS, a blood disorder characterized by abnormal bone marrow function.
- Congenital heart defects: Some studies have linked mutations in KMT2D to congenital heart defects, particularly in children with Kabuki syndrome.
Did you Know ?
According to the National Cancer Institute, MLL2-rearranged AML accounts for approximately 5-10% of all AML cases in adults. It is more prevalent in younger patients, with a median age of diagnosis of 25 years.
