Diabetes gene research may lead to new therapy for condition that hits 400,000 people

Genes are at the root of everything and I believe we’ll eventually find that most diseases are traced back to our genetic blueprint.

And not just single genes but groups of genes – families of them that work in unison. This is good news because if families of genes can be switched on and cause a disease, presumably we can find drugs to switch them off and prevent or cure that disease.

Edinburgh scientists have identified nine genes that play a key role in increasing the risk of developing type 1 diabetes – only four of which had been known before. Could this discovery lead to the development of new therapies to prevent and treat type 1 diabetes, which affects an estimated 400,000 people in the UK?

Genes can act in two different ways. Core genes have a direct impact on the development of disease while regulator genes have an indirect impact through their interactions with core genes. This is the first time core genes have been identified for type 1 diabetes. To pinpoint them, the Edinburgh ­University researchers used a new approach to explore the effect of variants – changes to the DNA sequence – on genes throughout our genome which cause disease.

The research team studied almost 5,000 people diagnosed with type 1 diabetes and 7,500 healthy individuals in Scotland from the Scottish Diabetes Research Network Type 1 Bioresource and the Generation Scotland study. Human beings are 99.9% identical in our genetic make-up. The 0.1% difference is caused by insertions, deletions and substitutions in the DNA sequences, and these variations can affect how genes work.

Previous studies exploring the link between variants and type 1 diabetes have focused on the impact of genetic changes on genes located nearby. These are known as “cis” effects. The research team also investigated the impact of variants on the activity of distant genes. These long-range influences of variants are known as “trans” effects.

By adding up the long-range effects of several variants, the research team found their impact was focused on a small number of core genes. Experts say the method could also be used to detect core genes in other conditions where variants are known to cause disease.

Almost all of the genes identified in the study are involved with the immune system, which in type 1 diabetes mistakenly attacks the cells responsible for producing the hormone insulin which regulates blood sugar levels. Experts say the findings reveal promising targets for new drugs to prevent or reverse the autoimmune damage to the cells that produce insulin.