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)|
|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 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|