Scientists claim to have unlocked key to enzyme function to study genetic disorders

2 Jul 2012

Dr Tewfik Soulimane from University of Limerick. He led the research project

Research led by University of Limerick (UL) scientists, which has just been published in Nature, claims to have detected the complex structure of a unique enzyme found in all living cells. The researchers believe their findings will pave the way for scientists to understand serious genetic disorders and develop drugs to treat them.

Science Foundation Ireland funded the research, which has been carried out at the Department of Chemical and Environmental Sciences and the Materials and Surface Science Institute at UL.

According to the researchers, the enzyme ‘cytochrome c oxidase/cytochrome c complex’ provides a vital function in the conversion of oxygen to water and energy within all living cells.

Following the discovery of the structure and function of the particular enzyme, the researchers involved in the project now believe this will help scientists in their understanding of many serious genetic disorders.

They said such disorders include Leigh Syndrome, MELAS mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, and AISA (acquired idiopathic sideroblastic anemia).

Research published in journal Nature

Dr Tewfik Soulimane from UL served as lead researcher on the project.

‘Structural insights into electron transfer in caa3-type cytochrome c oxidase’, which has been published in the journal Nature, has been co-authored by Soulimane and Joseph Lyons from UL, Orla Slattery from UL, David Aragão from Trinity College Dublin (TCD) and Prof Martin Caffrey from TCD.

“These findings will have a profound impact on basic and applied sciences through the understanding of cellular respiration and energy conservation, as well as genetic disorders, including Leigh syndrome, MELAS and AISA,” said Soulimane.

“The structure will help our understanding of these diseases and subsequently will aid researchers in the rational design and discovery of drugs that can help alleviate their effects,” he added.

The researchers said this is the first membrane protein structure solved by an Irish-based research group.

They said this enzyme has long been known to provide a central function in cellular respiration and energy conservation.

However, up until now, the scientists said this enzyme’s make-up and function has not been fully understood.

As well as being the first protein structure solved by an Irish-based research group, the UL and TCD researchers believe it is also the largest membrane protein that has been crystallised to date using a crystallisation technique discovered by Landau and Rosenbusch at the Biocentre in Basel, Switzerland, in 1996.

They said this technique has been further developed to a high standard of miniaturisation and robotics by Martin Caffrey at TCD.

Carmel Doyle was a long-time reporter with Silicon Republic