Genetic background of myalgic encephalomyelitis/chronic fatigue syndrome

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a chronic, characteristic feature of central and functional impairments. The main form of ME/CFS includes physical and specific elements that are not included in the package. There are several diagnostic criteria, but according to the generally accepted supplementary version, it lasts for more than 6 months and provides access to additional functional abilities (Baker and Shaw 2007). The etiology of ME/CFS is unknown; up to 80% of ME/CFS onsets were preceded by a viral infection (Clayton 2015). The first studies indicate a link between ME/CFS and long COVID symptoms, with more than half of patients with long COVID symptoms meeting the diagnostic criteria for ME/CFS (Davis et al. 2023). The pathophysiological mechanism is not fully understood. Some studies have suggested that muscle and brain hypoperfusion are the main source of complications (Campen, Rowe, and Visser 2020; van Campen, Rowe, and Visser 2020; Wirth and Scheibenbogen 2021). Familial occurrence of ME/CFS may be inherited (Underhill and O'gorman 2006; Walsh et al. 2001). The disease is most often diagnosed between the ages of 10-19 and 30-39 (Bakken et al. 2014), which means that the risk of ME/CFS is subject to non-Mendelian inheritance. The genetic basis of ME/CFS is polygenic, caused by multiple variants with individual effects that together can disrupt the metabolic pathways that cause the disease. The aim of the grant study is to investigate the genetic basis of ME/CFS through whole-exome extension using reads on the NextSeq 2000 (Illumina) instrument. The research material used was DNA isolated from four individuals (the father was asymptomatic, the mother was mildly symptomatic, and the two mothers were both symptomatic and diagnosed around the age of 20) who met the diagnostic criteria for ME/CFS. Genomic analysis was conducted on families with ME/CFS risk and the mechanism of inheritance.