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
https://pubmed.ncbi.nlm.nih.gov/26673666%20https://pubmed.ncbi.nlm.nih.gov/21551238/

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