Priority 8 from the Mitochondrial Disease PSP
| UNCERTAINTY: What factors could trigger the start of mitochondrial disease in people who have a genetic mutation? (JLA PSP Priority 8) | |
|---|---|
| Overall ranking | 8 |
| JLA question ID | 0095/8 |
| Explanatory note | Not available |
| Evidence |
https://www.ncbi.nlm.nih.gov/pubmed/19525327 |
| Health Research Classification System category | Metabolic and Endocrine |
| Extra information provided by this PSP | |
|---|---|
| Original uncertainty examples | What are the triggers? ~ What caused the disease to start in my teens, ~ Why does it take many years for diseases such as Leber'sandMELAS to present yet the gene defect is there from conception. Could lead to therapeutic approaches. ~ In a mitochondrial DNA mutation can carrying a very ill child (99%) change the mother’s DNA mutation? This feels like a silly question when I say it out loud but I have a 65% ATP6 mutation and I can’t help feeling physically worse since having (and losing) my daughter. ~ Is vitamin B12 deficiency linked to mitochondrial disease? I have been diagnosed with this recently and asked about any experiences of this in thelilymito family group and this seems to be a common connection. ~ What triggers the catastrophic sudden death of retinal ganglion cells? |
| Submitted by | 8 x Carer, 3 x Patient, 2 x Healthcare Professionals |
| 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 |