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Thread: What are the effects of variations in Mitchondrial DNA in humans?

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    What are the effects of variations in Mitchondrial DNA in humans?

    What are the effects of variations in Mitochondrial DNA in humans?

    Are there any effects that we know of to the variations in mtDNA, or are they thought to be "empty genes" or "junk DNA"?

    In a situation in which two individuals had the same autosomal DNA but different (assuming not resulting in a disorder) mitochondrial DNA, do we know if there would be any tangible differences in their behavior, appearance, or otherwise biological composition?

    Do people from different mitochondrial haplogroups have any distinct traits as a result?
    Last edited by PerceptionDeception; 12-03-2017 at 02:08 PM.

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    yeah various effects, brain pH, cold/warm weather adaptation, apparently degree at which some viruses/bacteria affect people, aging, all sorts of things to do with energy supply of course

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    The daughter of a friend of mine was diagnosed with MELAS Syndrome when she was 12 or 13 years old. The letters stand for "Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes".

    MELAS syndrome is caused by certain mutations to the mitochondrial DNA, which means it can be passed on from mother to child over multiple generations, though there are also de novo occurences of the mutation(s).

    Symptoms include:

    • brain dysfunction (encephalopathy) with seizures and headaches,
    • muscle disease with a build-up of lactic acid in the blood (a condition called lactic acidosis),
    • temporary local paralysis (stroke-like episodes)
    • abnormal thinking (dementia)


    https://www.medicinenet.com/melas_sy...t_causes_melas

    My friend's daughter was first diagnosed when she was 12 or 13 years old. Her parents went from initial relief when the doctors ruled out brain cancer, to shock and horror when they learned that what she actually had was in some ways worse.

    She went from being a very bright, happy, and active child to one who needed first crutches, then a walker, and finally a motorized wheel chair. Her speech became progressively more difficult and eventually impossible.

    When she was initially diagnosed, both her mother and her sister also had to be tested because it is passed on mother to child. However, there was no sign of the mutation in either mother or sister. That doesn't necessarily mean they don't have the mutation, but not enough mitochondria carry the mutation for it to appear in testing.

    Each cell has several to many mitochondria, and not every mitochondrion has to have the same mutations. But, in any mitochondrion whose DNA includes the "bad" mutation, so will any copies. But as I understand it, the disease will only appear once the number or percentage of mitochondria with the mutation reaches a certain threshold.

    My point, though, is that mitochondrial disorders can be anything from barely noticeable to really, really, really bad. MELAS is one of the latter, but there are also other mitochondrial disorders. These disorders can affect just about any organ or system, or a whole range of organs and/or systems.

    http://www.mitoaction.org/mito-faq?g...RoCVqYQAvD_BwE
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    In a situation in which two individuals had the same autosomal DNA but different (assuming not resulting in a disorder) mitochondrial DNA, do we know if there would be any tangible differences in their behavior, appearance, or otherwise biological composition?

    Do people from different mitochondrial haplogroups have any distinct traits as a result?
    As to this part of the question, I think the answer is probably no. That is, mitochondrial DNA may affect cellular function -- and ultimately organ and system function -- but unless it's a large effect I don't think it's too likely to affect appearance or other traits. These are determined by nuclear DNA, for the most part.

    Perhaps it isn't a very good analogy, but think of two cars that are essentially the same. One, though, happens to get a tankful of gasoline with some impurities that affect how well the engine runs. All kinds of problems may eventually ensue, but the cars started out as pretty similar.

    I think it's likely to be very similar with people and traits. The traits, to the extent that they're affected by DNA, will be mostly the result of nuclear DNA. But mtDNA may affect the ultimate functioning of the body -- it's just that it shouldn't matter too much, barring a seriously defective mutation. (Or perhaps a number of them.)

    EDIT:

    I forgot to mention that there's a mitochondrial mutation that can lead to hearing loss. Hearing loss, depending on severity, could potentially cause other problems -- even affecting school or job performance, or relationships.

    It shouldn't have any effect on appearance, but it could obviously be a "quality of life" sort of thing.

    https://www.ncbi.nlm.nih.gov/books/NBK1422/

    2nd EDIT:

    I actually have the 1555A>G mutation, and I was exposed to an aminoglycoside at a young age -- specifically, streptomycin. (Also neomycin much later, come to think of it.)

    I do have a mild hearing loss, but not the moderate-to-profound hearing loss mentioned in the NCBI reference. Still, you can see that mitochondrial DNA is important to proper function of many of the body's organs and systems.

    But as I said earlier, function and appearance are not exactly the same. If severe enough, the one will affect the other. Otherwise, you might not ever know.
    Last edited by geebee; 12-09-2017 at 07:13 AM.
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    Quote Originally Posted by wombatofthenorth View Post
    yeah various effects, brain pH, cold/warm weather adaptation, apparently degree at which some viruses/bacteria affect people, aging, all sorts of things to do with energy supply of course
    How did you come to this conclusion?

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    Quote Originally Posted by geebee View Post
    Perhaps it isn't a very good analogy, but think of two cars that are essentially the same. One, though, happens to get a tankful of gasoline with some impurities that affect how well the engine runs. All kinds of problems may eventually ensue, but the cars started out as pretty similar.

    I think it's likely to be very similar with people and traits. The traits, to the extent that they're affected by DNA, will be mostly the result of nuclear DNA. But mtDNA may affect the ultimate functioning of the body.

    It shouldn't have any effect on appearance, but it could obviously be a "quality of life" sort of thing.
    So mtDNA has many (though nuanced) roles to play across general health? I would be inclined to agree. mtDNA definitely hasn't strongly influenced longevity in my maternal line; my grandmother died at 73, her mother at 79. My gran's mother also has siblings (same mtDNA that lived to be in their mid 90s).

    I imagine mtDNA has something to say and tissue health such as the brain and muscle.

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    H is supposed to be more resistant to sepsis, which would give something of an evolutionary advantage -- maybe fewer deaths related to childbirth.
    R1b>M269>L23>L51>L11>P312>DF19>DF88>FGC11833 >S4281>S4268>Z17112>BY44243

    Ancestors: Francis Cooke (M223/I2a2a) b1583; Hester Mahieu (Cooke) (J1c2 mtDNA) b.1584; Richard Warren (E-M35) b1578; Elizabeth Walker (Warren) (H1j mtDNA) b1583;
    John Mead (I2a1/P37.2) b1634; Rev. Joseph Hull (I1, L1301+ L1302-) b1595; Benjamin Harrington (M223/I2a2a-Y5729) b1618; Joshua Griffith (L21>DF13) b1593;
    John Wing (U106) b1584; Thomas Gunn (DF19) b1605; Hermann Wilhelm (DF19) b1635

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