NCNED Does It Again - Another Positive Gene Study Highlights Issues with Nervous System Genes

[Cort]

• http://www.la-press.com/examination-of-single-nucleotide-polymorphisms-in-acetylcholine-recept-article-a4862

They looked at nine genes associated with neuronal and neuromuscular transmission. Again - a small number of genes popped out - just two - suggesting they've really found something....

• Check out a blog on their first study here

Objective: Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a disorder characterized by debilitating fatigue accompanied by pain and impairments in memory, cognition, and concentration. Acetylcholine (ACh) has a plethora of roles in neuronal and neuromuscular transmission. There are two types of ACh receptors, muscarinic and nicotinic, comprising 17 different subunits of the nicotinic ACh receptor (nAChR) and five different subtypes of the muscarinic receptor (mAChR) that have been identified in humans. The purpose of this study was to determine the role of ACh receptor (nAChRs and mAChRs) single nucleotide polymorphisms (SNPs) in CFS/ME patients.

Methods: One-hundred and fifteen CFS/ME patients (age = 48.68 ± 1.06 years) and 90 nonfatigued controls (age = 46.48 ± 1.22 years) participated in this study, where CFS/ME patients were defined according to the 1994 Center for Disease Prevention and Control (CDC) criteria. A total of 464 SNPs for nine mammalian ACh receptor genes (M1, M2, M3, M4, M5, alpha 2, 5, 7, and 10) were examined via the Agena Biosciences iPLEX Gold assay. Statistical analysis was performed using the PLINK analysis software.

Results: Seventeen SNPs were significantly associated with CFS/ME patients compared with the controls. Nine of these SNPs were associated with mAChRM3 (rs4463655; P = 0.00281, rs589962; P = 0.00348, rs1072320; P = 0.00371, rs7543259; P = 0.00513, rs6661621; P = 0.00536 rs7520974; P = 0.0167, rs726169; P = 0.02349, rsrs6669810; P = 0.02361, rsrs6429157; P = 0.0375), while the remainder were associated with nAChR alpha 10 (rs2672211; P = 0.0107, rs2672214; P = 0.0108, rs2741868; P = 0.01185, rs2741870; P = 0.01281, rs2741862; P = 0.03043), alpha 5 (rs951266; P = 0.01153; rs7180002, P = 0.03682), and alpha 2 (rs2565048; P = 0.01403).

Conclusion: The data from this pilot study suggest an association between ACh receptors, predominantly M3 and CFS. ACh receptor SNPs may contribute to the pathomechanism of CFS/ME.

 

[Ket]

This is great! Did you see the reddit article that DR Staines daughter did . I'll try find a link.

http://www.reddit.com/r/cfs/comments/37gbi9/new_australian_studies_identify_likely/

 

[Ket]

I hope it's ok, I've cut and pasted a bit from the article from the reddit link above:


Based on the Griffith University team's finding, Professor Staines, when asked what sort of classification ME/CFS should now fall under, says: "Because these receptors are expressed absolutely everywhere it is an illness that affects all body systems, so it could be seen as immunological, neurological, cardiovascular, gastrointestinal, genitourinary and skeletomuscular…Our sense is this is likely to be an ion channel disease, but also an ACh receptor disease…therefore probably both…making it a unique problem for disease classification. Indeed some of these two receptor types are both anatomically and functionally linked. Our research suggests that CFS/ME is in fact an illness within a novel category of disease pathomechanism. The critical next step is to try to determine if these SNP anomalies actually do cause change in function of these receptors".

 

[Cort]

I hope it's ok, I've cut and pasted a bit from the article from the reddit link above:


Based on the Griffith University team's finding, Professor Staines, when asked what sort of classification ME/CFS should now fall under, says: "Because these receptors are expressed absolutely everywhere it is an illness that affects all body systems, so it could be seen as immunological, neurological, cardiovascular, gastrointestinal, genitourinary and skeletomuscular…Our sense is this is likely to be an ion channel disease, but also an ACh receptor disease…therefore probably both…making it a unique problem for disease classification. Indeed some of these two receptor types are both anatomically and functionally linked. Our research suggests that CFS/ME is in fact an illness within a novel category of disease pathomechanism. The critical next step is to try to determine if these SNP anomalies actually do cause change in function of these receptors".

That's great Ket! Thanks very much for passing that on.