3 ms·
If the memory serves me right, Quebec has the largest number of people with genetical alterations in mitochondrial DNA. Normally 1/50000, Quebec 1/1000. Not su
by garganzol 5y ago
If the memory serves me right, Quebec has the largest number of people with genetical alterations in mitochondrial DNA. Normally 1/50000, Quebec 1/1000.
Not sure how close New Brunswick to this statistics, but this can be a contributing factor to disease onset.
The defect causes the malfunction of electron transport chain in respiratory tract of mitochondria that leads to reduced ATP production and starving tissues as the result.
mtDNA sequencing and transketolase tests may be give good hints.
I wonder if those people receive the adequate assistance? I may be mistaken, but I can imagine those patients are mostly ignored as those tests cannot be conceived at the regional labs - this is a higher level and more expensive thing.
The tests would be super helpful:
- if transketolase is bad and mtDNA is bad - this may be well a genetical disease
- if transketolase is bad and mtDNA is good - it can be an environmental thing such as long-term poisoning or malnutrition
- if both transketolase and mtDNA are good - we should look somewhere else (prions, unknown infection, neurotoxins).