Priority 3 from the Mitochondrial Disease PSP

UNCERTAINTY: What are the biological mechanisms that cause mitochondrial disease to get worse over time? (JLA PSP Priority 3)
Overall ranking 3
JLA question ID 0095/3
Explanatory note  Not available

No relevant evidence found (studies exist for secondary mitochondrial disorders, outside the scope of this PSP. 

Health Research Classification System category Metabolic and Endocrine
Extra information provided by this PSP
Original uncertainty examples What factors cause progression in 3243a)g mutation? ~ What are the mechanisms of disease progression? ~ what determines progression? ~ 
It would be really good to know a little more about what genes influence and modify mitochondrial DNA mutations, causing such huge variations in phenotype and progression between individuals with the same genetic cause.
 ~ We understand very little about the mechanisms of disease progression in patients with mitochondrial disease. This is a vital area of research because if we understood more about the factors involved in progression then we may be able to devise better treatments ~ To understand more clearly the role heteroplasmy in disease progression of mtDNA diseases.
Submitted by   5 x Healthcare Professional, 1 x Patient, 1 x Carer
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