Researchers at LKCMedicine have identified two key genes that are responsible for a majority of acute lymphoblastic leukaemia (ALL) cases in children with Down’s syndrome.
ALL, a cancer of the white blood cells, is the most common cancer in children, with 50 to 100 children diagnosed each year in Singapore. This gene discovery is good news not only for children with Down’s syndrome who suffer from this cancer, but also the 20 per cent of children who do not respond well to standard therapy.
The discovery, made by an international team led by LKCMedicine Professor of Molecular Medicine Dean Nizetic is described in a paper published in the prestigious academic journal Nature Communications in August 2014.
Prof Nizetic’s team of experts in ageing and Down’s syndrome collaborated with researchers from Queen Mary University in London and the universities of Geneva and Padua.
“By analysing the DNA sequence of patient samples at different stages of the disease, we identified mutations in two genes that turn normal blood cells into cancer cells,” said Prof Nizetic, the senior author of the study.
The research team also found that the two genes (RAS and JAK) never mutate together, which makes them ideal biomarkers.
“This could benefit all children affected by the disease as clinicians would be able to offer tailored, more specific and less toxic treatments, reducing side effects and even cutting down the number of side effect-related deaths,” added Prof Nizetic.
Prof Nizetic’s team at LKCMedicine is focusing on Down’s syndrome to gain a better understanding of the condition, which presents many complex mysteries. Although their cells show signs of accelerated ageing and accumulated DNA damage, paradoxically, people with Down’s syndrome seem to be protected from most common solid tissue cancers in adulthood.
“Some people with Down’s syndrome appear protected from ageing-related diseases, such as dementia, atherosclerosis and Type 2 diabetes despite increased risk factors,” said Prof Nizetic.
“Studying their cells could not only help them lead longer and healthier lives, but also provide important clues in understanding the general mechanisms of ageing, Alzheimer's dementia, cancer, atherosclerosis, diabetes, and a number of other common conditions, something that has so far not been sufficiently explored.”