Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome

Abstract

ABSTRACT. Chronic fatigue syndrome (CFS) is a disease that can seriously impair one's quality of life; patients complain of excessive fatigue and myalgia following physical exertion. This disease may be associated with abnormalities in genes affecting exercise tolerance and physical performance. Adenosine monophosphate deaminase (AMPD1), carnitine palmitoyltransferase II (CPT2), and the muscle isoform of glycogen phosphorylase (PYGM) genes provide instructions for producing enzymes that play major roles in energy production during work. The aim of this study was to look for evidence of genotypeassociated excessive muscle fatigue. Three metabolic genes (AMPD1, CPT2, and PYGM) were therefore fully sequenced in 17 Italian patients with CFS. We examined polymorphisms known to alter the function of these metabolic genes, and compared their genotypic distributions in CFS patients and 50 healthy controls using chi-square tests and odds ratios. One-way analysis of variance with F-ratio was carried out to determine the associations between genotypes and disease severity using CF scores. No major genetic variations between patients and controls were found in the three genes studied, and we did not find any association between these genes and CFS. In conclusion, variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of CFS.

Genetics of COVID‐19 and myalgic encephalomyelitis/chronic fatigue syndrome: a systematic review

“…Many other studies found a significant association between ME/CFS and polymorphisms in the disrupted‐in‐schizophrenia 1 gene (DISC1), with copy number variants in genes associated with the function of the central nervous system, as well as with polymorphisms in ion channels and acetylcholine receptors, as well as with previously mentioned polymorphisms in HLA class I and class II loci 188–191 . One more study examined the contribution of AMPD1 , CPT2 , and PGYM genes, but no significant association was detected with CFS 192 . In addition, polymorphisms in neuroendocrine effector and receptor genes like TPH2 , COMT , and NR3C1 were found to predict the development of CFS 193 .…”

“…[188][189][190][191] One more study examined the contribution of AMPD1, CPT2, and PGYM genes, but no significant association was detected with CFS. 192 In addition, polymorphisms in neuroendocrine effector and receptor genes like TPH2, COMT, and NR3C1 were found to predict the development of CFS. 193 Twenty-one variants harbored in 13 different genes (FAM126B, TCF3, EIF3A, UBTF, METTL3, SORL1, IL6ST, PNPLA6, BMP2K, ARSD, GSN, HIF1A, and PEX16) were also associated with ME/ CFS in the context of one more study.…”