Trinity College study helps tell tale of human evolution
Geneticists from Trinity College Dublin have found clues to a substantial number of diseases that helps tell the tale of human evolution.
Their findings isolate a list of 'Goldilocks' genes for many diverse conditions including autism spectrum disorders, schizophrenia, ADHD, intellectual disability, developmental delay, and epilepsy.
In their study, the Trinity geneticists focused on regions of the genome that are duplicated or deleted in some individuals.
Aoife McLysaght, Professor in Genetics at Trinity College Dublin told the Irish Independent that there are over 20,000 genes in the human genome that contain the all-important codes used to produce specific proteins in the body.
"Think of DNA as a string with beads on it," she said. These beads are genes which often get duplicated or removed, which is perfectly normal in most cases. However, sometimes this causes disease.
"Our aim of this study was to try and understand what genes are particularly sensitive to these neurological conditions.
"We refer to them as 'Goldilocks genes' because if they get duplicated or removed then things go screwy. They have to be just right or things won't work properly, she said.
The Trinity team looked back over our evolutionary history to discover which genes don't tolerate increases or decreases over evolutionary time. This segment of their work suggested that the key is in the presence of these Goldilocks genes within the disease-causing CNVs (Copy Number Variations).
"Our work demonstrates that our evolutionary history is useful for understanding human disease," added Ms McLysaght.
"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. 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."
The study is expected to help doctors increase their understanding of neurological conditions and also to improve diagnostics.
"When you understand conditions like ADHD, schizophrenia and epilepsy you have a better chance of treating them," said Ms McLysaght.
The geneticists' findings have been published in the leading international journal, Nature Communications.