Now worrying new rise in leukaemia risk for young people with genetic mutation could mean many of them develop MS
A worrying new rise in leukaemia risk among teenagers with a genetic mutation may make many of them develop multiple sclerosis, researchers say.
One-in-40 people in their 20s with mutations in their HRD gene are nearly five times more likely to develop leukaemia than people without the condition, according to a new report.
A breakdown in the precise mechanism by which the mutation causes leukaemia has not yet been established, said the research team, which hopes to name the gene as a potential cause.
MS is a degenerative disease in which the protective covering of the brain and spinal cord is damaged by damage to the immune system. People with the disease experience symptoms ranging from poor coordination to severe fatigue and cognitive difficulties.
In both humans and animals HRD is known to play a role in the development of leukaemia. Because of its unique location in the genome, researchers have been excited by the possibility that it might hold the key to the genetics of other diseases, including MS.
The new study, led by Susan Golub from the Wellcome Trust Sanger Institute, compared results from 1,819 HRD-positive people with a sibling who had developed leukaemia between the ages of 20 and 29.
They used powerful genome-wide association studies, which were programmed to identify possible human genetic mutations responsible for a wide range of illnesses such as leukaemia and MS.
The researchers found that 53 people with a sibling with leukaemia had inherited HRD-related mutations from a parent. Of these, 13 had inherited a mutation in the gene.
Those whose family members had the mutations were eight times more likely to develop leukaemia than those without the genetic variants. Of people who developed leukaemia, 15% developed the disease following the deletion of the HRD gene.
“What was really exciting was the impact that the mutation had,” said Golub. “We noticed that the majority of those who developed leukaemia, or those who did have leukaemia, after their deletion, also had more leukaemia after that deletion.”
Although the researchers were confident in their finding that the HRD gene could cause leukaemia, the precise mechanism by which it leads to the disease has not yet been identified.
The findings, however, are likely to fuel growing fears over the health of those carrying the HRD mutation, which are having a detrimental impact on the current popularity of the gene.
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“In a sense it’s a double hit,” said Golub. “The unfortunate thing about this is that we don’t know whether this factor could be a consequence of a completely benign event, such as a parent missing an HRD gene. However, what is more worrying is that the HRD mutation might be responsible for changing how the immune system responds and could be an underlying cause of MS in people with this mutation.”
Claire Costley, head of public affairs at the MS Society, said: “This exciting research shows the impact of this rare mutation in the HRD gene on the development of multiple sclerosis. We know that most people with MS have no underlying health condition.”
“This research shows that even something as simple as a chromosome deletion can have a damaging impact on the health of our bodies. So it’s crucial we work as a society to support those who have inherited this kind of mutation, so they can understand the consequences of their condition.”