Hoopoe
Senior Member (Voting Rights)
I felt like writing about this.
In my opinion ME/CFS is probably a label for several different poorly understood illnesses that happen to share some characteristics and which do not yet have their own name. We might call them subtypes of ME/CFS. Then, in a ME/CFS cohort there is probably also a significant percentage of patients whose primary illness was erroneously diagnosed as ME/CFS. These could be unusual presentations of common illnesses with some similarity to ME/CFS like multiple sclerosis, or adult-onset forms of rare diseases like primary mitochondrial disorders or muscle diseases that are often difficult to diagnose.
A large study like DecodeME could have the statistical power to allow some separation of these subtypes of ME/CFS. It probably won't help the patients with the rare diseases to be correctly diagnosed. There will be a significant portion of patients that won't fit in any of the ME/CFS subtypes.
What kind of genetic variants might we find?
DecodeME is going to highlight the risk factors common to most patients with ME/CFS.
If a monogenetic form of ME/CFS was identified it could help a lot in understanding what's going wrong. My understanding is that it would require a very different kind of study, one centered on detailed genetic testing of families with clusters of ME/CFS.
ME/CFS seems to be linked to infections so one could think that it might share genetic risk factors with other infection-associated illnesses like multiple sclerosis or things like post-singles nerve pain. Maybe there are some subtle immune deficiencies or abnormal host responses to infection at play here?
ME/CFS appears to affect the brain and it might share genetic risk factors with neurological and psychiatric illnesses like parkinson's disease and schizophrenia. These could be genes that ensure healthy function of the brain.
ME/CFS also seems to have a certain distinctiveness to it, for example in postexertional malaise or how no treatments seem to work. This distinctiveness suggests a distinct pathophsyiology and this could extend to the genetic risk factors. If DecodeME highlights some genes that nobody can much sense of with no prior association to any illness, then these could be related to the more distinct aspects of the illness.
DecodeME might point us directly at genes that increase the risk or severity of PEM. These would I think be genes that are expressed in particular during the recovery phase from exercise or stressors.
I also get the impression that the triggering infection often reported by patients might be just an event that tips the balance of a system that was already vulnerable for an obscure reason. Maybe the distinction between infectious and noninfectious onset subtypes of ME/CFS merely reflect how much it takes to tip the balance towards illness. One could therefore think that the patients with non-infectious or no trigger might have more/stronger genetic risk factors (although as a whole I expect it will be a more heterogeneous group that the infectious trigger group)
In my opinion ME/CFS is probably a label for several different poorly understood illnesses that happen to share some characteristics and which do not yet have their own name. We might call them subtypes of ME/CFS. Then, in a ME/CFS cohort there is probably also a significant percentage of patients whose primary illness was erroneously diagnosed as ME/CFS. These could be unusual presentations of common illnesses with some similarity to ME/CFS like multiple sclerosis, or adult-onset forms of rare diseases like primary mitochondrial disorders or muscle diseases that are often difficult to diagnose.
A large study like DecodeME could have the statistical power to allow some separation of these subtypes of ME/CFS. It probably won't help the patients with the rare diseases to be correctly diagnosed. There will be a significant portion of patients that won't fit in any of the ME/CFS subtypes.
What kind of genetic variants might we find?
DecodeME is going to highlight the risk factors common to most patients with ME/CFS.
If a monogenetic form of ME/CFS was identified it could help a lot in understanding what's going wrong. My understanding is that it would require a very different kind of study, one centered on detailed genetic testing of families with clusters of ME/CFS.
ME/CFS seems to be linked to infections so one could think that it might share genetic risk factors with other infection-associated illnesses like multiple sclerosis or things like post-singles nerve pain. Maybe there are some subtle immune deficiencies or abnormal host responses to infection at play here?
ME/CFS appears to affect the brain and it might share genetic risk factors with neurological and psychiatric illnesses like parkinson's disease and schizophrenia. These could be genes that ensure healthy function of the brain.
ME/CFS also seems to have a certain distinctiveness to it, for example in postexertional malaise or how no treatments seem to work. This distinctiveness suggests a distinct pathophsyiology and this could extend to the genetic risk factors. If DecodeME highlights some genes that nobody can much sense of with no prior association to any illness, then these could be related to the more distinct aspects of the illness.
DecodeME might point us directly at genes that increase the risk or severity of PEM. These would I think be genes that are expressed in particular during the recovery phase from exercise or stressors.
I also get the impression that the triggering infection often reported by patients might be just an event that tips the balance of a system that was already vulnerable for an obscure reason. Maybe the distinction between infectious and noninfectious onset subtypes of ME/CFS merely reflect how much it takes to tip the balance towards illness. One could therefore think that the patients with non-infectious or no trigger might have more/stronger genetic risk factors (although as a whole I expect it will be a more heterogeneous group that the infectious trigger group)
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