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 |
| Evidence |
https://pubmed.ncbi.nlm.nih.gov/26404827/ |
| 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 |