question on complexes and mito genetics

[Guest guest]

I have perhaps a silly question, but I will ask anyways...

if you have a defect in two complexes like I have complex II and III,

do you have symptoms of both? Also is the complex that comes first

the primary defect? Like would I have a primary complex II defect

that is affecting complex III?

Also complex II is nuclear but some of complex III is nuclear and

some mtDNA..but it would stay nuclear in me right?

Oh one more...sorry

if someone ( me lol ) has a autosomal recessive disorder then they

would have inherited it from both their parents but then you cant

pass it down to your kids unless you marry another carrier even

though you have it right? If I have the defect and so do all three

of my kids than it has to be dominant right???

There is a complex II defect ( subunit A ) that is autosomal

recessive or dominant.

thanks

S

[Guest guest]

Such big questions, but I'll try to shed a little bit of light on the

subject. In the process of energy production in the mitochondria, each step

is important as they go along. A complex I defect can affect the entire

chain of changes to the energy production level. This complex deals with

metabolizing carbs. Complex II is where the fatty acids come in through beta

oxidation. After that, it is a matter of continued processing to end up with

ATP (energy). Since we don't have total defects in all cells, the process

may work fine in one mitochondria and not in another. When a complex is not

working properly because of an earlier step then it is considered a

functional defect. I have a defect in complex I for sure and a functional

defect in II. My III is not normal, but it could be due to a defect or the

complex I problem. There are also ways for the III and IV to bring in some

raw materials, but not real adequately.

If you and your kids have a defect, it could be that it is a dominent

nuclear gene defect, a nuclear gene defect which is carried by each parent,

a mitochondria gene defect or a defect that controls how some of the

material is transfered. In our family it is thought that we have a mtDNA

defet (it has not been found) because of the way it has been transmitted -

my mother had it, as does all of her children (some affected more than

others). I have two boys which are affected, has a daughter who is

affected. So far, there is no indication that any of our brothers' children

show symptoms. If this is a mtDNA defect, then the only person who can pass

it on is 's daughter. Genetics is so very complicated, even if the

mitDNA is not figured in.

This is my understanding of how it works.

laurie

>

> Reply-To:

> Date: Mon, 31 May 2004 15:25:22 -0000

> To:

> Subject: question on complexes and mito genetics

>

> I have perhaps a silly question, but I will ask anyways...

> if you have a defect in two complexes like I have complex II and III,

> do you have symptoms of both? Also is the complex that comes first

> the primary defect? Like would I have a primary complex II defect

> that is affecting complex III?

> Also complex II is nuclear but some of complex III is nuclear and

> some mtDNA..but it would stay nuclear in me right?

> Oh one more...sorry

> if someone ( me lol ) has a autosomal recessive disorder then they

> would have inherited it from both their parents but then you cant

> pass it down to your kids unless you marry another carrier even

> though you have it right? If I have the defect and so do all three

> of my kids than it has to be dominant right???

> There is a complex II defect ( subunit A ) that is autosomal

> recessive or dominant.

> thanks

> S

>

>

>

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