Multiple myeloma genome visualised
30 Mar 2011 by Evoluted New Media
The genetic blueprint of multiple myeloma has yielded new and unexpected insights into how this form of blood cancer develops and could influence the direction of research into the disease.
The genetic blueprint of multiple myeloma has yielded new and unexpected insights into how this form of blood cancer develops and could influence the direction of research into the disease.
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A micrograph of malignant plasma cells, the blood cancer multiple myeloma |
Researchers from the Broad Institute and the Dana-Farber Cancer Institute studied the genomes from 38 cancer samples and discovered genes that had never before been associated with cancer. They also discovered multiple genetic mutations that disrupt a handful of common pathways, or chains of chemical reactions that trigger a change in a cell.
Individually, each mutation is uncommon and might have remained undiscovered had the researchers not looked at such a large collection of samples.
“Already, we can see that mutations are funnelling into a limited number of pathways,” said Todd Golub, co-senior author. “This is a demonstration of the value of looking at more than just a single tumour in great depth.”
The researchers found sets of mutations affecting several genes in the same pathway – including the NF-KB pathway. If activated at the wrong time, the pathway can turn on genes that allow cancer cells to grow and divide unchecked. They discovered 11 different genes involved in this pathways that were altered in at least one multiple myeloma sample.
The study has also uncovered new mutations affecting genes that had not previously been implicated in cancer.
“These genes, which are frequently mutated, were not on anyone’s radar before when thinking about multiple myeloma specifically or cancer in general,” said Golub. “This shows that there are entirely new cancer-causing genes that are going to be discovered through the gene sequencing efforts.”
Researchers found mutations in genes that control two fundamental cellular processes – how RNA is processed and proteins are folded – in half of the study’s patients. DIS3 and FAM46C appear to play important roles in the stability of RNA and it’s translation into protein. They also found mutated genes involved in blood clotting.
Follow-up studies will be needed to investigate the role these defective genes play in cancer and how they can inform treatment.
“It’s going to take a lot of biological research to sort out whether these will make good drug targets,” said Golub. “But this is an example of how genetic analysis can help point the field in the right direction very dramatically.”
