Fruit flies help Brighton scientists get to the heart of human genetics

A study by scientists at Sussex University suggests that fruit flies could give us a better understanding of the way that the human heart works.

The study was published yesterday (Thursday 22 August) in the journal Science Express.

It describes how researchers studying fruit flies (drosophila) have been able to determine the genetic function of a peptide.

The peptide regulates a calcium pump in the heart muscles of the fruit fly.

This particular peptide – a chemical compound formed of amino acids – is encoded by a short sequence of DNA known as a small Open Reading Frame (smORF).

The team then showed that the same smORF has been conserved for more than 500 million years in many animal species – something that has not been shown before.

It is made up of a sequence of just 28 amino acids and is already known to regulate muscle contraction in the human heart.

Juan Couso led the study involving a multidisciplinary team made up of members of the university’s School of Life Sciences.

Professor Couso said: “Our research shows that smORFs can be very ancient and can be conserved in genomes for a long period of time.

“These smORFs, therefore, must have very important functions, such as regulating heart muscle contractions.

“We can’t keep ignoring smORFs – instead we should study their functions systematically.”

The finding is significant because it offers the fruit fly as an easy model to use in the study of the millions of tiny smORFs.

These have been overlooked in genetic research because of the huge technical challenges in detecting them.

Fruit flies provide an alternative way of studying these smORFs because they breed in big numbers in only 10 days. They enable genetic experiments to be carried out more quickly.

Professor Couso said: “The smORF gene in humans, sarcolipin, has been known for a while and its clinical relevance has been well studied.”

He said that his team’s study put forward the fly as a model system to study sarcolipin and related heart diseases using genetic techniques that could not be used with humans.

For example, he said, the fly could now be used by other researchers to find out which other genes can make some arrhythmias better or worse.

The team is looking to expand its research into smORFs from flies to vertebrates and already has advanced data on another smORF that also seems to be conserved in flies and humans.

The study is headed “Conserved Regulation of Cardiac Calcium Uptake by Peptides Encoded in Small Open Reading Frames” by Emile G Magny, Jose Ignacio Pueyo, Frances MG Pearl, Miguel Angel Cespedes, Jeremy E Niven, Sarah A Bishop and Juan Pablo Couso in Science Express, published Thursday 22 August 2013. The digital object identifier (doi) is 10.1126/science.1238802.