Overlooked DNA mutations ‘may increase bowel cancer patients’ survival chances’

A scientist looks through a microscope in a classroom.
A scientist looks through a microscope in a classroom.

UK scientists have identified a group of mutations in overlooked DNA in tumour cells that may increase the chances of survival for people with bowel cancer.

These mutations are present in the DNA in mitochondria – often known as “powerhouses” of cells because these tiny structures help turn food into energy.

While it is known that mitochondrial mutations can be found in cancer cells, there has been little research into what they do.

In a study funded by Cancer Research UK, the researchers found that patients with colorectal cancer – a common form of bowel cancer – who had these mutations had up to 93% decreased risk of death from their cancer.

They hope their findings, published in the journal Nature Metabolism, could help identify those with more aggressive forms of bowel cancer and provide more effective treatments.

Dr Payam Gammage, co-lead author and Group Leader at the Cancer Research UK Beatson Institute, said: “This new study shines a light on the impact of mitochondrial DNA mutations in cancer, which have been overlooked for decades.

“This discovery could have a huge impact on patient care, with potential for changes to suggested treatments and a patient’s outlook based upon the mitochondrial DNA status of their cancer.

“However, further research will be necessary to move these discoveries from the lab to the clinic.”

The scientists analysed data from 344 patients with colorectal cancer to identify groups of mutations linked to the likelihood of survival.

They found that the presence of mitochondrial DNA mutations was associated with 57 to 93% decreased risk of death from colorectal cancer, depending on the type of the mutation.

The team also looked at existing data from more than 10,000 tumour samples across 23 types of cancer to search for mitochondrial mutations that frequently cropped up.

They found that mitochondrial mutations were present in almost six in 10 of the tumour samples.

These results indicate that mitochondrial mutations could play a role in survival beyond bowel cancer, the researchers said, but added further research is needed to understand the wider implications.

Dr Ed Reznik, co-lead author based at Memorial Sloan Kettering Cancer Centre, said: “Using data hiding in plain sight, we have shown that a critical piece of the cell’s machinery to make energy is quite often broken in cancers.

“It now begs the question of how these mutations within mitochondrial DNA might be exploited as drug targets.”


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