MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.

Scientific Reports
Marianne VenterJoanna L Elson

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.

References

Aug 23, 2001·American Journal of Human Genetics·A TorroniR Scozzari
Jan 9, 2004·American Journal of Human Genetics·J L ElsonNeil Howell
Jan 13, 2006·Human Genetics·Joanna L ElsonNeil Howell
Feb 20, 2007·American Journal of Human Genetics·Joanna L ElsonPatrick F Chinnery
Aug 2, 2007·American Journal of Human Genetics·Gavin HudsonPatrick F Chinnery
Feb 14, 2008·PloS One·Xinhua YuSaleh M Ibrahim
Oct 15, 2008·Human Mutation·Mannis van Oven, Manfred Kayser
Jul 14, 2011·European Journal of Clinical Investigation·David E J JonesJulia L Newton
Feb 6, 2015·Annals of Neurology·Gráinne S GormanRobert McFarland
Feb 10, 2017·Nucleic Acids Research·Julien Robert-PaganinNicolas Leulliot
Jun 4, 2017·Mitochondrion·Karien EsterhuizenRoan Louw
Nov 18, 2017·Annals of Neurology·Alexander G BuryIlse S Pienaar
Apr 19, 2018·Biochemical Society Transactions·Cara Tomas, Julia Newton

❮ Previous
Next ❯

Citations

Dec 13, 2019·The Journal of Clinical Investigation·Alexandra H MandaranoMaureen R Hanson
Jul 1, 2020·Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis·Christian M HagenMichael Christiansen
Apr 30, 2020·Metabolites·Joseph S MillerKevin V Hackshaw
Aug 4, 2020·Human Molecular Genetics·Joshua J DibbleChris P Ponting
Feb 11, 2021·Healthcare·Victoria StrassheimTracy Collins
Oct 28, 2020·Scientific Reports·Cara TomasMark Walker

❮ Previous
Next ❯

Methods Mentioned

BETA
RSA

Software Mentioned

MitoMap
PowerPoint
Prism
Haplogrep
NETWORK Publisher
GraphPad
Adobe Photoshop Elements
NETWORK
SPSS Statistics
MutPred

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.