Trinity scientists close in on autism, epilepsy and ADHD origin

8 Feb 2017

Image: CI Photos/Shutterstock

Honing in on the genes that propagate disorders such as autism, schizophrenia and epilepsy has proved difficult, though Trinity College Dublin geneticists claim to have made a major leap in this field.

Pathogenic genes are being hunted down all over the world, with geneticists poring over mounds of data to try and nail down the specific bad guys behind a plethora of diseases.

New research from Trinity College Dublin has shone a light on a collection of prime candidates, as scientists Alan Rice and Aoife McLysaght studied evolutionary history to better understand neurodevelopmental disorders and diseases.

Their findings, published in Nature Communications, isolate a list of genes for candidates with many conditions, including autism spectrum disorders, schizophrenia, ADHD, intellectual disability, developmental delay and epilepsy.

Looking at the evolution of humans, and how certain genes increase and decrease through duplication and depletion over time, certain regions of the human genome were highlighted as areas of interest.

“Our idea was that there must be some genes within these regions with ‘Goldilocks’ properties: too much or too little duplication, and things don’t work properly. The number of copies must be just right,” said McLysaght.

Of the thousands of genes in the human genome that produce proteins, the ones that duplicate and delete over time are known as ‘copy number variants’ (CNVs), of which there are many.

Some CNVs are known to be related to degenerative diseases, though that relationship is far from clear. Through Rice and McLysaght’s research, a more solid picture is now emerging.

For example, pathogenic CNVs are far more likely to be home to development genes.

The team also found that CNVs associated with developmental disorders tended to vary far less, in terms of the number of gene copies present over those not associated with problems.

“Our work demonstrates that our evolutionary history is useful for understanding human disease,” said McLysaght.

Yesterday, spoke with Mike Mulligan, a DNA historian, on this particular theme.

“These metrics also allow us to home in on a short list of genes as candidates for the diseases in question – some of which are seriously debilitating,” added McLysaght.

“Isolating specific genes that are linked to these disorders will increase our understanding of how and why they develop, lead to better diagnostics, and potentially help to develop therapies further down the line.”

In 2014, McLysaght was featured as part of the Women Invent series on and previously spoke about the onset of a post-antibiotic era. Last year, she made our Science 50 list for her pioneering work in science communication.

Gordon Hunt was a journalist with Silicon Republic