Proteins that help provide energy for cells may be involved in Parkinson’s disease
The Involvement of Mitochondrial Proteins CHCHD2 and CHCHD10 in Parkinson’s Disease
All cells in the human body share a common need for energy to support their functions. In most cases, that energy is generated and managed by small organelles within each cell, called mitochondria. When mitochondria malfunction, they can no longer support cell survival, but certain cells in the body, such as neurons, are more sensitive to disruption of the mitochondrial pathways than others.
Defects in energy production appear to be responsible for at least two major neurodegenerative diseases, Amyotrophic Lateral Sclerosis (ALS) and Parkinson’s disease (PD). Researchers are now taking a closer look at two mitochondrial proteins that may play a key role in neurodegeneration, because mutations in these genes have been associated with ALS and Parkinson’s. Their names—coiled-coil helix coiled-coil helix domain-containing proteins 2 and 10 (CHCHD2 and CHCHD10)—reflect their physical structure.
For Isabella Straub, a doctoral student at McGill University, this connection is just the beginning of what makes these proteins interesting and relevant to understanding the nature of Parkinson’s disease. After completing her master’s degree in her native Germany, Straub came to McGill because of the university’s extensive research in this field. That has included the study of how CHCHD2 variants behave in mitochondria, which may function in the same pathway as other proteins associated with Parkinson’s disease, such as Parkin and PINK1,
“Straub and her colleagues are studying the precise function of these CHCHD proteins.
Their research uses cells with mitochondria containing genetically modified CHCHD2, which the researchers achieve using the recently developed gene-editing tool CRISPR/Cas9.
Straub is able to compare normal cells and those containing a single genetic alteration.
In this way, researchers will be able to draw conclusions about what is causing these changes to the body’s cells. The presence of CHCHD2 is expected to be among the primary causes, but Straub and her colleagues will also be able to explore the many different biochemical pathways that could be responsible.
For her, this capability provides the field of genomics with some of the most powerful tools available to study neurodegenerative conditions like Parkinson’s disease.
‘It is like having a gigantic flashlight in the dark,’ she concludes, ‘which allows you to look at different processes of the cell at the same time and how they are being regulated.’