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Newly identified genetic variants associated with ME/CFS

Prof. Brett Lidbury at the Australian National University, and colleagues at various other institutions in Australia and Colombia, have been engaged in the search for genetic markers of ME/CFS.

The team has recently published the findings of an ME Research UK-funded study in which they analysed the whole-exome sequences (i.e. all the regions of genes that provide instructions for making proteins) of 77 people with ME/CFS.

Variants in a number of genes were significantly associated with ME/CFS, compared with a matched population. These genes are involved in several processes in the brain – including the generation of new neurons in the cerebral cortex – and in the development of neuroblastoma, a type of cancer affecting the nerve tissue. Interestingly, variants in these genes have also been linked with neurological conditions.

These findings were backed up by analyses in an independent cohort of patients, and the researchers emphasise the need for further studies to look at their implications on the development of ME/CFS.

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