Journal of IiMER Volume 10 Issue 1 We have completed exome sequencing in a total of 18 people, from two different families with significant incidence of ME disease among first and second degree relatives. We have started analysing a third family. Regarding the two families for whom we have completed exome sequencing and subsequent analysis, we have several relevant gene variants that are being investigated further. Currently we have focused on an interesting genetic variation (mutation) that all the sick persons in one family have, and which occurs in approximately 2/1000 of a European general population. The variant also occurs in a few of the patients included in our clinical trial. We focus our efforts towards this variation now and have taken skin biopsies (all cells in the affected have the same gene variant) for cultivating cell cultures and closer examination of energy metabolism. We have created cells in which the mutation is "inserted" by means of gene transfection, and where we can "turn up" the expression of the mutated variant significantly, and see the implications for the cells. We believe the version we're dealing with now may be relevant to the disease, and data so far fits in well with the work we otherwise perform now, to identify disease mechanisms of ME closer. 04/15/16 Øystein Fluge Olav Mella Ove Bruland June 2016 Invest in ME (Charity Nr. 1114035) www.investinme.org Page 41 of 77
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