Re: Some help and advice please

[Guest guest]

Laurie -

Welcome to the mitolist. As I am new to this myself, I don't have too

much to offer, except perhaps an answer to your last question. From the

way I understand it, after the fresh muscle biopsy is tested, the

genetic testing is started on the remaining tissue. Unlike the cellular

DNA, all the mito.DNA has been identified (I think there 16K plus

pairs). Of these mitoDNA, there are some pretty well-established sites

for the already-identified mito diseases (like MERRF and MELAS). Those

are checked first for problems (either DNA deletions or mutations), then

they begin to check all the remaining pairs for further evidence of a

problem. This testing can take a long time (my son's results still

aren't complete and it has been 13months). At the end of all the genetic

testing, you MAY have a diagnosis, if the problem is in the mito DNA

only, or you may not, if the problem is in the cellular DNA. If they do

find a problem which is in the mito DNA, but is not a well-known site,

they will test the mother's mito DNA for the same sites to determine if

she also has a mutation. If she does (and doesn't have any symptoms),

then that probably isn't the cause for the disorder. If she doesn't,

then it probably is. Also, if there is a defect near a known site, then

that is evidence that the body may have symptoms similar to the known

disorder. (Let's say that MERRF has a mito DNA mutation at pair #8347

and your son has a defect at #8349. Then he may have very similar

problems as a MERRF patient would have.) Confused? Probably, but that is

how I understand it from the explanation that I received. Please don't

take my word as fact, but run it by your Dr. as I am not a medical

person... My hopes are with you and your son. Take care - Gail

Laurie Hodge wrote:

>

>

>

> I¹ve just joined the list and would appreciate some help. Sorry if you feel

> like you¹re repeating yourself!

>

> Cameron (3yrs 6mths) has had numerous problems since approx 6 months. The

> last twelve months have shown steady regression. Symptoms: Lactic acidosis,

> seizures, optic atrophy, Cornea ulcerations, raised liver LFT¹s,

> constipation, inability to control temperature, low tone(originally thought

> to be cerebral palsy), damage to nervous system etc. etc. etc. He currently

> is nasal gastric fed and requires morphine, panadol, diazepam etc. Has never

> talked or walked - although he used to be able to sit on his own. We believe

> he has only a few months to live given his current regression rate - looking

> at MELAS / MERRF.

>

> After three years and heaps of tests we have learned that he has a

> respiratory chain defect effecting Complexes lll and lV (borderline low for

> complexes l, ll and citrate synthase)- from muscle and liver biopsy

> completed six months ago. Another 3 month wait for skin!

>

> I basically understand mitochondrial process BUT explaining it to others is

> difficult.

>

> Questions:

> 1. Where is a good web site for basic information about the Respiratory

> Chain and complexes etc.?

>

> 2. Are there others in Australia and New Zealand who we can contact?

>

> 3. Is there a more appropriate discussion group for our needs, as this site

> seems to cover a wide raft of mito conditions - there are heaps of them!

>

> 4. After they identify where there are problems in the mitochondria - is

> this the starting point for genetic investigation? How do they pin-point it

> to an exact disease (or can they)?

>

> Look forward to any help.

>

> Regards

>

> Laurie and Gaewyn Hodge

> Papakura, Auckland, New Zealand

> lehodge@...

>

> ---------------------------