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Update from Haukeland on the genetic predisposition project

mango

Senior Member
Messages
905
http://me-forskning.no/oppdatering-fra-haukeland-om-prosjektet-pa-genetisk-predisposisjon/

Translated by Google:
Update from Haukeland about the project on genetic predisposition.

The following is an update from Haukeland University about the project on genetic predisposition to ME / CFS.

Brief status of the project on genetic predisposition to ME / CFS

In a published study shows a clear genetic predisposition to ME (Albright et al, 2011). This was a population-based study in which risk of ME was 2.7 times higher in first-degree relatives of CFS patients, 2.3 times higher in second degree relatives, and 1.93 times higher in cubic relatives, compared with the risk of ME in the general population.

Our research group at the Department of Oncology, Haukeland University Hospital, has in recent years been contacted by several independent families with striking accumulation of ME that everyone has wanted us to do further analyzes on mapping of genetic predisposition. We believe mapping of gene changes in affected patients will be an important step forward in the understanding of disease mechanisms.

We conducted eksom sequencing from both CFS patients and healthy family members, where all the coding regions of the genome, including the flanking regions intro characterized. This technique is considered experimental diagnostic / research and is not considered a full investigation of all genetic variants that exist in a human. Initially we will only answer the question of what is the molecular genetic predisposition to ME disease in our patients. Eksomet constituting the coding parts of genes including the flanking intron portions, is approximately 1.5% of the total DNA of a human cell, but about 85% of all known mutations is still located therein.

We imagine that some families may have genetic variants of immune genes such as HLA genes, where it is known that specific HLA types are correlated with various autoimmune diseases. HLA genes in ME examined in a specific project at OUS, led by Benedicte Lie, Marthe Viken and Torstein Egeland.

At Haukeland Hospital, we are most concerned about families with significant accumulation of ME disease, often with multiple siblings with onset relatively early age, often with a relatively severe illness, and preferably with ME disease in successive generations. We believe any such families may have genetic variants directly in "effector" of symptoms (which symptoms are created), and where the detection of such variants can tell us about disease mechanisms.

We have completed finished eksom sequencing from a total of 18 people, from two different families with significant incidence of ME disease among first and second degree relatives. We have started with analyzes from a third family.

For the two families which we have carried eksom sequencing and subsequent analysis, we have more relevant gene variants being investigated further.

Currently we have focused on an interesting genetic variation (mutation) that all the sickness of a family has, and which occurs in approximately 2/1000 of a European general population. The variant also occurs in a few of the patients included in the clinical trials our. We focus efforts towards this variation now and have taken skin biopsy (all cells in the affected've the same gene variant) for cultivating cell cultures and examine energy turnover closer.

We have created cells in which 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 of 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
 

mango

Senior Member
Messages
905
@mango, what does "eksom" mean?

I'm totally not the right person to answer that! o_O :D As I understand it, it's something to do with big-scale sequencing of the part of our genes that codes for proteins? But I could be totally wrong.

ETA: I believe "exome" is the English word for it? Wikipedia says:
Exome sequencing (also known as Whole Exome Sequencing, WES or WXS) is a technique for sequencing all the expressed genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology.

https://en.wikipedia.org/wiki/Exome_sequencing
 
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msf

Senior Member
Messages
3,650
I found this part particularly interesting: ´We believe any such families may have genetic variants directly in "effector" of symptoms (which symptoms are created).´

I believe that mild ME runs in my family (both me and my father have had it, with very similar symptoms).
 

Bob

Senior Member
Messages
16,455
Location
England (south coast)
Øystein Fluge Olav Mella Ove Bruland said:
We focus efforts towards this variation now and have taken skin biopsy (all cells in the affected've the same gene variant) for cultivating cell cultures and examine energy turnover closer.

We have created cells in which 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 of cells.
I like this sort of research i.e. growing cell cultures. I wonder what they will be looking for and testing for.
 

JaimeS

Senior Member
Messages
3,408
Location
Silicon Valley, CA
I wonder whether CBT also reverses this genetic mutation. Because the head is attached to the body. And, you know, feelings and stuff.

But psychological disorders are heritable. Everyone knows this! If the genes are solely understood to be related to the immune or endocrine system, the endocrine system is also related to feelings...

...and stuff.

It's amazing how you can turn ABSOLUTELY ANYTHING into the psychogenic argument. That's the real beauty of it. :rolleyes:

-J
 

Marky90

Science breeds knowledge, opinion breeds ignorance
Messages
1,253
But psychological disorders are heritable. Everyone knows this! If the genes are solely understood to be related to the immune or endocrine system, the endocrine system is also related to feelings...

...and stuff.

It's amazing how you can turn ABSOLUTELY ANYTHING into the psychogenic argument. That's the real beauty of it. :rolleyes:

-J

... But the seperation of mind and body is artificial.. If you got aids in your body, u probably got aids on your mind! So you must get aids out of your mind, to get aids out of your body. Antivirals simply mask the disease in your soul.
 

NL93

Senior Member
Messages
155
Location
The Netherlands
... But the seperation of mind and body is artificial.. If you got aids in your body, u probably got aids on your mind! So you must get aids out of your mind, to get aids out of your body. Antivirals simply mask the disease in your soul.

A compromised immune system is also one of the classic signs of depression and stress. No wonder they have so many infections. And the worrying about that leads to further stress and depression. It's a self fullfilling prophecy.
 

eastcoast12

Senior Member
Messages
136
Location
Long Island ny
... But the seperation of mind and body is artificial.. If you got aids in your body, u probably got aids on your mind! So you must get aids out of your mind, to get aids out of your body. Antivirals simply mask the disease in your soul.
LOL. So your sayin all we need to do is hit the confession booth, say a few Hail Marys and our diseased soul will rest cleansed.
You know what I never understood and have never heard an answer for is if we are all just crazy, how the hell do we all have the same wired and obscure symptoms. I certainly didn't know about any of this until I started feeling this. It took a year and about 10 doctor visits before I decided to research online. The only explanation I can think of is we're not crazy and it's real or that were so insane we can communicate with each other telepathically.
 

Marky90

Science breeds knowledge, opinion breeds ignorance
Messages
1,253
LOL. So your sayin all we need to do is hit the confession booth, say a few Hail Marys and our diseased soul will rest cleansed.
You know what I never understood and have never heard an answer for is if we are all just crazy, how the hell do we all have the same wired and obscure symptoms. I certainly didn't know about any of this until I started feeling this. It took a year and about 10 doctor visits before I decided to research online. The only explanation I can think of is we're not crazy and it's real or that were so insane we can communicate with each other telepathically.

I like the latter. Telepathic lunacy syndrome. Might even be taken seriously as the abbreviation is close to ALS.