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am trying to understand gene research. Can anyone give me the basic facts?

Discussion in 'Latest ME/CFS Research' started by anniekim, Jan 16, 2012.

  1. anniekim

    anniekim Senior Member

    I was wondering whether any bright bods/knowledgeable people could explain in very simple terms how genes indicate illness etc, as I don't understand it all. The quote below was written in one of Cort's excellent front line articles and it's a good example of what I'm trying to understand:

    Do we all have the innate immune system gene but it's when there are mutations in a gene that indicate a possible area of weakness/illness? So the study mentioned above indicated mutations in the innate immune system in those with heptatiis and CFS?

    Many thanks in advance
    anne_likes_red and merylg like this.
  2. richvank

    richvank Senior Member

    Hi, anniekim.

    Each of us has two copies each of about 30,000 genes, located on 23 pairs of chromosomes. While we are over 99.9% the same in terms of genes, we each have our own set of polymorphisms, which is what makes each of us unique. A polymorphism is a different version of a gene. There are several types of polymorphisms. Perhaps the most common is the single nucleotide polymorphism or SNP. There are also things like deletions of part of a gene, or repeats of part of a gene. In a SNP, one of the nucleotides has been replaced by another.

    There are estimated to be 10 million possible SNPs in the entire human genome, which is why no two people have exactly the same set (except for identical twins). We inherit the SNPs from our parents. Children with the same parents do not receive the same set of SNPs (except for identical twins), because they receive different sections of their genome (called haplotypes) from their mother and their father.

    The genes each contain codes for making proteins. The proteins (including enzymes) are what carry on the biochemistry in the body. Part of this biochemistry is found in the immune system, of which the innate immune system is a part.

    Some of the polymorphisms have little or no effect on the biochemistry. Others are very important. The most serious ones are called mutations, and they occur (roughly speaking) in less than 1% of the population, but sometimes these two terms are used interchangeably.

    A single mutation is often responsible by itself for a genetic disease, and some of them are quite serious, leading to early death or serious disablement.

    Disorders such as ME/CFS and autism have not been found to be due to a single mutation, but are more likely predisposed by having inherited a collection of polymorphisms that may vary somewhat from one person to another.

    I didn't read about the one you cited, but yes, I think you have the right understanding about it, based on what you have quoted.

    Best regards,

    ahimsa, anne_likes_red and merylg like this.
  3. robinsonsb


    Wow, thanks for the clear explanation!

  4. anniekim

    anniekim Senior Member

    Wow from me too. Thanks Rich for making it all a bit clearer. Science was my weak area at school so through your very clear teaching my very unscientific brain understands it a little bit more. What would we do without you here on PR?
  5. Bob


    England (south coast)
    As far as I understand, some of the prominent studies currently being carried out are not looking at mutations but they are looking at differences in 'gene expression'.
    I can't quite remember how 'gene expression' is actually tested or measured, but I can explain a bit about what it means, as far as I understand it.

    Our genes are codes for all the proteins and enzymes that make the body work.
    And the internal workings of our cells utilise our genes and other cellular equipment to manufature the proteins.
    The rate at which our cells create these proteins has to be regulated, otherwise they would just randomly pump out proteins whether they were needed or not, leading to chaos.
    So each gene that codes for a specific protein needs to be switched on or off, and regulated to control the flow of proteins.
    If a gene is said to be upregulated, then it means that it is creating more proteins.
    If it is downregulated, then it is creating less proteins.

    Some of the CFS studies have tested gene regulation in CFS patients after exercise compared with 'normal control subjects'.
    In CFS patients, some specific genes have been seen to be upregulated or downregulated after exercise, when compared with normal controls.
    This altered regulation of our genes could potentially be used as a biomarker for CFS.

    This is all as I understand it, so I might have some things wrong.
    ahimsa likes this.
  6. Snow Leopard

    Snow Leopard Hibernating

    South Australia
    Bob, if you think about the translation process from a gene into an enzyme, there are several things you can measure:

    - The DNA (eg the raw code)
    - The messenger-RNA (which is produced when the body wishes to express a gene)
    - Absolute numbers of a protein (including enzymes or receptors etc)
    - The function/activity of an enzyme (ether on a cellular basis, or with flow cytometry)
  7. Enid

    Enid Senior Member

    Snow Leopard you are a scientist (my family all Docs) Indeed genetic predisposition. So please can we keep with the pathogenenis of this illness. I cannot approve of all the games "science" (guess it all psychos in particular) infultrate.Lets's be clear about this now - and sink.Autoimmune diagnosed.
  8. ramakentesh

    ramakentesh Senior Member

    And epigenetics is the whole new paradigm. the complex regulation of gene expression that changes as a consequence of all sorts of environmental factors, and more importantly, seems to play a role in cancer (through abberant hypermethylation of gene promoters causing silencing of expression), Diabetes m, some autoimmune diseases and has been implicated in POTS (through heavy methylation of the NET gene promoter).

    So the genes can look normal, but their expression can be altered or even silenced.

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