Two of the lectures from this seminar are now available on YouTube. They were from prof. Karl Johan Tronstad and prof. Benedicte Lie. The lectures are in Norwegian. The third lecture was from David Tuller and will be available soon.
Prof. Tronstad works closely with Fluge/Mella and their team on research into energy metabolism in cells.
Here is his lecture called Is ME/CFS caused by energy deficiency in the body's cells?
Professor Benedicte Lie gave this lecture called Genetic testing to explore the immune system's role in ME/CFS.
Professor Tronstad's research together with Fluge and Mella is well known for many of you, but prof. Benedicte Lie and her team might not be as familiar, so I made this summary of prof. Benedicte Lie's lecture in case someone might find it of use:
There are three people working full time on the research; Asgeir Lande, Riad Hajdarevic and Anne Rydland. It's mainly results from Asgeir Lande's work prof. Benedicte Lie presents in the lecture.
They cooperate with Fluge/Mella and their team, and with the CFS/ME Center at Oslo University Hospital with Elin Bolle Strand and Daysi D. Sosa. They also have user involvement from at panel with four patients/carers.
Their material is from a biobank with 425 ME patients recruited from different studies and from the Norwegian ME Association.
This is internationally the largest material until now which has been used for publications on immune genes. They've also collected samples from a few severe ME patients.
The blood samples are used to isolate DNA in order to study the genetics and thus look for genetic variants associated with ME or with specific characterisations of the disease.
They've collected a lot of data about ME and possible triggers.
By studying autoimmune disease, researchers have learned about genetic or hereditable components to these diseases. Some features are striking. 101 genetic risk factors for arthritis have been identified. Only a few of these are unique for increased risk of arthritis. Most of the variants give increased vulnerability for other autoimmune diseases as well. In other words, most of them are shared among several diseases.
A particular array for genotype by the size of a match box has been developed. This enables us to determine in individuals what kind of variants they have in these known risk genes for autoimmune diseases and for other sentral immunological genes. Prof. Lie and her team have delivered ME samples from their biobank for this testing and are waiting the results after Christmas.
13% of the 425 ME patients they have access to have stated that they also have other autoimmune diseases. That is a higher number than compared with the general population, which is approximately 5%.
This fits with an autoimmune profile.
38% of the patients state they have a close relative with an autoimmune disease. That's many.
A person has higher risk to develop ME if someone closely related has it.
14% of the patients state having a parent, sibling or child with ME.
In diabetes it's 8%.
MS 7%
Inflammatory bowel disease 10-20%
They've studied HLA-genes. ME patients have a certain variant of HLA in higher frequency; DQ9. It is statistical significant, but not very high. 12.5% of the patients have it, compared to 8.8% of healthy controls.
How does this fit with what has been found in other autoimmune diseases? In arthritis there are certain HLA-variants found in 75% of the patients and 35% of the general population.
There are three HLA-tests used diagnostically today, amongst other for narcolepsy and coeliac disease, where one has found variants present in almost all patients, but also in a large group of the general population. It's therefore used only as aid in confirming a diagnosis when clinical symptoms are present.
The risk contribution for ME is an increased risk of 1.5. By ulcerous colitis it's 1.7 and by Myasthenia gravis it's 1.8. By identifying subgroups for Myasthenia gravis one could identify an increased risk at 3.1 and 2.4 sorted after the patient's age when the illness began. Perhaps subgroups like that in ME will be identified in time, thus making the HLA-association more clear. The researchers are working on this.
HLA is a molecule central in the immune system. It identifies small parts of all proteins in the body. If something foreign enters, from virus or bacteria, the immune cells can then identify and destroy them. What happens in autoimmune illnesses is that suddenly something in the body itself is attacked instead. There is a hypothesis that there might be some similarity between certain viruses that triggers an immune response. Virus infections are a common trigger for autoimmune diseases.
Based on their own material, 73% of the ME patients stated having developed ME after an infection.
So far they've found a possible risk variant in an HLA-assosiation which seems to be more present in ME patients compared with controls. This must be replicated. They are now going to investigate several thousand immune genes in order to se if there are some features characteristic for ME patients compared to healthy controls.
Hopefully this will uncover whether there are some parts of the immune system involved. ME patients are probably a heterogen patient group, as with the other autoimmune diseases.
The goal is to understand more of the biology of which precision medicine is based upon.
Prof. Benedicte Lie believes ME is an autoimmune disease. The evidence so far does not speak against it. But other autoimmune diseases have a head start of decades with international research necessary in order to answer this question. An advantage though is that lots have been learned from the other diseases and one can avoid some false tracks.
With increased research and international research she hopes the question of whether ME is an autoimmune disease will be answered.
