Friday, December 02, 2016

My ADRA1A gene on Chromosome 8 is "nearly significant"

A research paper published recently by the NCNED in Queensland, Australia has found a nearly significant prevalence of the presence of a gene mutation on the ADRA1A gene. I happen to have the problem allele (GG) according to my 23andme results and so do 75% of people who have responded in ME/CFS Australia Facebook group.

Showing my raw data for SNP rs2322333:

The specific physiological implications of ADRA1A are mainly involved in smooth muscle contraction. This is required for vasoconstriction of blood vessels throughout the body including the skin, gastrointestinal system, genitourinary system, kidney and brain. It is also involved in the glycogenolysis and gluconeogenesis of adipose tissue in the liver, in addition to enabling secretions from sweat glands. These above processes have been associated with symptomatology of CFS/ME. Hence, the differential expression of ADRA1A may explain particular clinical phenotypes of CFS/ME.

It is associated with processes that result in the release of Ca2+into the cytoplasm and contributes to a slow after depolarizing current (sADP) in neurons which means they are talking about electrical signals in the nervous system.  It is also associated with a decrease in gene expression of various mRNAs . The minor allele (AA) may also have a key role in ligand selectivity but I do not know what that is and I have not got the minor allele anyway.

Johnston, S., Staines, D., Klein, A., & Marshall-Gradisnik, S. (2016). A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis. BMC Medical Genetics, 17, 79.

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