TranslatePriority 14 from the Mitochondrial Disease PSP
| UNCERTAINTY: How do the different genetic mutations cause the symptoms people experience with mitochondrial disease? (JLA PSP Priority 14) | |
|---|---|
| Overall ranking | 14 |
| JLA question ID | 0095/14 |
| Explanatory note | Not available |
| Evidence |
None identified |
| Health Research Classification System category | Metabolic and Endocrine |
| Extra information provided by this PSP | |
|---|---|
| Original uncertainty examples |
Why do retinal ganglion cells die in Leber's hereditary optic neuropathy? ~ I carry only 20% and have been told I wouldn’t suffer symptoms but I feel I do, muscle fatigue and tiredness, is this true ? ~ Which other systems are most likely to be affected and how? ~ Like to understand low thyroid T3 connection is there a thyroid and T3 connection to the disease ~ How do genetic mutations in POLG cause epilepsy? What determines phenotypic presentation of mitochondrial disease? ~ Why does 3243 cause MELAS in some people and MIDD in others? |
| Submitted by | 19 x Healthcare Professionals, 6 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 |
