SCIENCE AND RESEARCH
Researching pieces of the protein puzzle
Dr Isabel Lopez Sanchez’s study at Sweden’s Karolinska Institutet advances knowledge of the role of a critical protein.
Mitochondria are the powerpacks in our cells that produce the energy they need to function. Our eyes do a lot of work, so eye cells require a massive amount of this energy.
When defects occur in mitochondria, energy production stops, making the eye nerve cells, in particular, vulnerable. This increases the risk of these cells dying and could lead to loss of vision.
Mitochondria are unique in that they have their own protein-making machinery.
Dr Isabel Lopez Sanchez, who leads CERA’s mitochondrial biology and disease research, has been researching the pieces of this ‘protein puzzle’ to understand the factors that lead to mitochondrial disease, some of which have shown strong links to degenerative eye diseases.
Now along with her research on Leber’s Hereditary Optic Neuropathy and other disease-causing genes in people with vision loss, she has published a study which shows how a particular protein (GTPBP5) interacts with other proteins in the mitochondria.
This interaction may play a role in the formation of defective particles in the mitochondria (mutations) that could translate to human disease.
The study of GTPBP5 is in early stages. However, the findings from Dr Lopez Sanchez’s study have the potential to uncover new factors and interactions in mitochondria that could provide clues for better detection of genetic disorders of the nervous system.
It could also identify specific treatments to stop or modify the effect of mutations.
Dr Lopez Sanchez worked with a research team at Karolinska Institutet, led by Assistant Professor Joanne Rorbach.
“The work we did was discovery science,” Dr Lopez Sanchez explains. “This type of mechanistic study may lead to better understanding of degeneration in the nerve cells including those in the optic nerve and could uncover clues to improved diagnosis of conditions and targeted treatments including for those that save sight.”
Dr Lopez Sanchez’s research was published this year in the journal Nucleic Acid Research.
You can read the full study ‘Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly’: doi.org/10.1093/nar/gkaa1131