Priority 11 from the Mitochondrial Disease PSP

UNCERTAINTY: What are the genetic mutations that cause mitochondrial disease and how do they cause it? (JLA PSP Priority 11)
Overall ranking 11
JLA question ID 0095/11
Explanatory note  Not available

Health Research Classification System category Metabolic and Endocrine
Extra information provided by this PSP
Original uncertainty examples How does the genetic mutation lead to disease? ~ Where did 3243a^g originally come from? ~ Interested in the genetics of the condition, ~ 
Ongoing research into genetic causes of mitochondrial ocular disease with/out syndromic features ~ What are all the genetic causes of mitochondrial disease?  ~ The role that defective fatty acid synthesis plays as an underlying cause of mitochondrial disease ~ Progress with identifying the genetic basis is particularly important for severe paediatric onset diseases with no effective treatment as it allows prenatal diagnosis (or PGD) to be offered.
Submitted by  4 x Healthcare professionals, 2 x Carers, 1 x Patient
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