MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations (2019), De Venter et al.

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MeSci

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Source: Scientific Reports

Preprint

Date: January 15, 2019

URL: http://sro.sussex.ac.uk/81281/

Ref: http://www.nature.com/srep/

MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: A study of mildly deleterious variants
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Marianne De Venter, Cara Tomas, Ilse Pienaar, Victoria, Strassheim, Elardus Erasmus, Wan-Fai,Ng, Neil Howell, Julia Newton, Francois Van der Westhuizen, Joanna Elson
- Brighton and Sussex Medical School

Abstract

Myalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condition. There is growing interest in a possible etiologic or pathogenic role of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation in ME/CFS. Supporting such a link, fatigue is common and often severe in patients with mitochondrial disease. We investigate the role of mtDNA variation in ME/CFS. No proven pathogenic mtDNA mutations were found. We then investigated population variation. Two cohorts were analysed, one from the UK (n = 89 moderately affected; 29 severely affected) and the other from South Africa (n = 143 moderately affected). For both cohorts, ME/CFS patients had an excess of individuals without a mildly deleterious population variant. The differences in population variation might reflect a mechanism important to the pathophysiology of ME/CFS.

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(c) 2019 Nature Publishing Group
 
MeSci said:
Ref: http://www.nature.com/srep/
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Why do you have a link to Nature? As far as I can see this study isn't published there.

However I did find this report on the Action for ME website that talks about this study
Lay Summery

Mitochondria are the powerhouses of the cell, and mitochondrial DNA (mtDNA) codes for proteins that are essential for energy production. Mothers alone pass mtDNA to their children creating distinct lineages, called haplogroups. These lineages have been used to deduce information about human history. However, anthropologists are not the only group interested in mtDNA, as mutations of mtDNA are an important cause of inherited disease, thus medical scientists also study mtDNA.

To understand disease caused by mtDNA mutations it is important to understand some of the central features of mitochondrial genetics, which make it different from nuclear genetics. The first is extreme multi-copy with 100’s or even 1000’s of mtDNA copies being found per cell, as opposed to nuclear chromosomes where two copies are found per cell. The number of mtDNA copies can be adapted to the energy requirements of a cell. This extreme multi-copy allows for a condition called heteroplasmy, which is where more than one mtDNA type is present within a cell. In people suffering mitochondrial disease resulting from an mtDNA mutation their cells have high levels of an mtDNA chromosome carrying a disease causing mutation. Our first aim was to see if patients with ME/CFS harbour any of the mtDNA mutations known to cause mitochondrial disease. The next important aspect of mtDNA genetics to understand is the high level of population variation associated with mtDNA. The second aim is to see if those with ME/CFS have different patterns of population variation when compared to controls. In the past mtDNA population variation has been associated with a number of common complex diseases including diabetes and multiple sclerosis, however, these association studies have been controversial. Some investigators in the field believe there are weakness in the mtDNA association model most commonly used by the mitochondrial field, which result in mtDNA association studies having a lack of repeatability. As such, we will be applying a recently developed association model as well as the more established model when considering mtDNA population variation in the context of ME/CFS.
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Word file (cached version) at https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=3&ved=2ahUKEwiz1c-Pq_rfAhVJUxUIHWq6CA0QFjACegQIBxAC&url=https://www.actionforme.org.uk/uploads/images/2018/01/Outline_report_June_II.docx&usg=AOvVaw0peKjgh6-n0R0FzX6zmSnb
 
Little Bluestem said:
Wouldn't a person's mitochondrial DNA stay the same throughout their life? That would not explain sudden onset ME.
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Surely it's not that the mtDNA 'causes' the ME so much as it sets up an environment where ME can be triggered at some point in life if the right other conditions occur, such as the right virus infection or immunisation shot or whatever finally triggered the ME
 
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