Priority 24 from the Mitochondrial Disease PSP

UNCERTAINTY: What causes the genetic mutation in people with mitochondrial disease whose parents don’t have the mutation? (JLA PSP Priority 24)
Overall ranking 24
JLA question ID 0095/24
Explanatory note  Not available

Health Research Classification System category Metabolic and Endocrine
Extra information provided by this PSP
Original uncertainty examples What causes the mutation? Can the mutation occur at any time or is it historical? ~ what causes sporadic DNA mutations? why do they happen? are you sure that they are sporadice? how do you know? ~ In [name]'s case her disease is spontaneous rather than genetic, more research into why it happened. ~ Why are there so many different mutations of the disorder. What triggers the mutations? Why do the mitochondria mutate? ~ What would have caused my mothers gene to mutate to cause the disease. ~ Is the fault on the gene a spontaneous mutation? ~ I didn’t inherit this disease. So what caused it?
Submitted by 5 x Patients, 2 x Carers
PSP information
PSP unique ID 0095
PSP name Mitochondrial Disease
Total number of uncertainties identified by this PSP. 42  (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop 19 January 2020