Disease prediction brought closer by Irish research discovery

Predicting a person’s likelihood of developing disease, long before signs and symptoms appear, has moved closer following a research discovery by Irish scientists.

A team at Queen’s University Belfast examined how certain DNA elements work to regulate gene expression within the genome and how this predisposes people to diseases.

They say this information could help predict a person’s risk of cancer, diabetes and heart disease, and could lead to earlier diagnosis before signs and symptoms of disease appears. The research has been published in the iScience journal.

Many diseases occur when things go wrong within a cell or set of cells in the body. Previous research has determined that many diseases result from mutations to a part of the DNA strand known as an “enhancer”.

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These findings answer many fundamental biological questions around the function of DNA in health and disease

Enhancers function as a “turn on” switch in gene expression and activate the promoter region of a particular gene. This means certain genetic traits can be “turned on” or “turned off”, which in turn shapes a person’s early development and lifetime health including their chance of developing a certain disease.

Enhancer DNA

The researchers discovered that enhancer DNA elements exhibit high propeller twist (ProT) levels, which is the angle of twisting of two neighbouring DNA bases about their long axis, like the propeller blades of an aeroplane.

Because of high ProT levels, the surface of these enhancer sections on the DNA strands become more physically accessible and flexible, thus allowing easier access for proteins that bind to DNA. As a result, they may be more prone to mutagenic agents harming cells and causing cancer and other diseases.

"These findings answer many fundamental biological questions around the function of DNA in health and disease," said Dr Vijay Tiwari, reader at Wellcome-Wolfson Institute for Experimental Medicine at Queen's and lead author on the paper.

Early diagnosis

“Our study is the first of its kind to provide insight into the role physical DNA features play in proper development of specific cell-types of the body and how their malfunctions may underlie diseases.”

The researchers also discovered that as cells become abnormal, they switch to using low ProT regions as enhancer elements. This may help with the development of early diagnosis of diseases.The research was carried out in collaboration with researchers from the Ludwig Maximilian University of Munich in Germany.