Gene Mutation Associated With Malignant Melanoma Found

Malignant melanoma is the worst type of skin cancer.  I recently posted on the topic.

Researchers have discovered that a mutation in the gene (called E318K) could block sumoylation of MITF.

Say what????

MITF = Microphthalmia transcription factor.  A transcription factor is a protein involved in building the mRNA code from DNA in a cell's nucleus.  The mRNA (m = messenger) then travels to the cell's ribosome to build the protein originally specified by the DNA gene.  MITF had already been known to be involved in melanocyte formation (melanomas are cancers of melanocyte cells).

Epigenetics is the study of how genetic messaging can be controlled from beyond the genes themselves.  Sumoylation is an epigenetic phenomenon.  Small Ubiquitin-like MOdifiers (SUMO) are small proteins (large compared to more common epigenetic modifiers) that can modulate gene expression of MITF.  Ubiquitin was an earlier discovered protein that had epigenetic effects.

If a gene has the E318K mutation this modulation does not occur and the MITF is overactive.  And people with melanoma have been found to have this mutation much more frequently than in controls.