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 |
| Evidence |
https://pubmed.ncbi.nlm.nih.gov/27659608/ |
| 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 |