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 |
| Evidence |
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 |