Genetic map reveals clues to degenerative disease

24 Aug 2011

An international research team, spearheaded by Dr Tim Mercer of the University of Queensland’s Institute for Molecular Bioscience, has unlocked the blueprints to the ‘power plants’ of the cell in an effort that will provide clues on treating a range of degenerative diseases.

The scientists, from the Universities of Queensland, Western Australia and Washington (Seattle), mapped the transcriptome of the human mitochondrion, which supplies energy to the body’s cells.

Professor John Mattick of UQ’s Institute for Molecular Bioscience (IMB), one of the leaders of the study, said the genome was like a static set of plans for the mitochondria’s genetic function, while the transcriptome revealed which genes were active at particular points in time.

“This is the first highly detailed map of the human mitochondrial transcriptome, as well as insights into its control mechanisms, and will provide an important resource for the future study of mitochondrial function and disease,” Professor Mattick said.

“By examining which genes are being expressed under various environmental conditions, such as in healthy cells versus infected cells, we can determine the changes in gene activity that may indicate or cause disease.”

Mutations in mitochondrial DNA lead to a range of disorders, many of which affect the nervous and muscular systems. The information the team has compiled will provide an improved framework to analyse how genetic mutations in the mitochondria affect gene activity and thus the body itself.

The study is published in the current edition of the leading science journal Cell, while the data sets are accessible at the mitochondria-specific genome browser

The work was supported by the Australian Research Council, the National Health and Medical Research Council, the Queensland Government, the Australian Stem Cell Centre and the US National Institutes of Health.


Professor John Mattick – 07 3346 2079

Dr Tim Mercer – 07 3346 2070

IMB Communications – 07 3346 2134 or 0418 575 247