Open Medicine Foundation blog post, 14 March 2018: OMF-funded research: a metabolic ‘trap’ hypothesis for ME/CFS
On this #OMFScienceWednesday we highlight a new project that OMF is funding, which proposes a new metabolic ‘trap’ hypothesis for ME/CFS. This project is just getting started under the direction of Dr. Robert Phair, Chief Science Officer of Integrative Bioinformatics, Inc., an expert in computational modelling of biological processes. Dr. Phair has been collaborating with Dr. Ron Davis’ team at Stanford for nearly 2 years on investigating mechanisms behind ME/CFS. In this project, they will test a new hypothesis that could help to explain some of the genetic and metabolic characteristics of ME/CFS patients.
The big data study of severely ill ME/CFS patients that we funded identified several genes that carry damaging mutations. Dr. Phair’s hypothesis, based on computational predictions, suggests that some of these mutations may slow down enzymes that process important metabolites required for our energy, brain function, and immune system. If this is true, it could explain some of the symptoms of ME/CFS. Identifying interesting mutations is the (relatively) easy part, though – experimental evidence is needed to confirm their impact.
During this project, the team will test how cells with these mutations carry out the relevant metabolic reactions, using special ‘tracer’ metabolites that can be easily followed as they are processed by the cells. These experiments will determine whether the mutations are indeed creating a metabolic ‘trap’ that could lead to the neurological and/or immunological symptoms of ME/CFS. We’ll be happy to share more details as the results provide more evidence. Stay tuned!