: Help with mito DNA blood test results

[Guest guest]

Hello everyone,

I am hoping one of you has heard of this. I got results back on my sons MT DNA blood work.

It said it was negative for KSS, MELAS/MERFF, NARP but at the bottom it said

Patient carries C13368A polymorphism ND5. the counselor said she believed it was a normal variant.

Anyone know of this genetic defect?

thanks

[Guest guest]

,

I came up with this when I typed it into the NORD search engine.

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bernard%20Soulier%20Syndrome

I'll look for more.

Alice

: Help with mito DNA blood test results

Hello everyone,I am hoping one of you has heard of this. I got results back on my sons MT DNA blood work.It said it was negative for KSS, MELAS/MERFF, NARP but at the bottom it said Patient carries C13368A polymorphism ND5. the counselor said she believed it was a normal variant.Anyone know of this genetic defect?thanks Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack.

[Guest guest]

,

I found that ND5 is Complex I (http://www.neuro.wustl.edu/neuromuscular/mitosyn.html#leigh). There is a lot of info here and would take some time looking it all up and knowing what it all means, but it's a start.

Blessings,

-- : Help with mito DNA blood test results

Hello everyone,I am hoping one of you has heard of this. I got results back on my sons MT DNA blood work.It said it was negative for KSS, MELAS/MERFF, NARP but at the bottom it said Patient carries C13368A polymorphism ND5. the counselor said she believed it was a normal variant.Anyone know of this genetic defect?thanks Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack.

[Guest guest]

-

Go to this link. It is pretty interesting. This is what I got when I put C13368A polymorphism ND5 into their search engine. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search & DB=PubMed

Alice

: Help with mito DNA blood test results

Hello everyone,I am hoping one of you has heard of this. I got results back on my sons MT DNA blood work.It said it was negative for KSS, MELAS/MERFF, NARP but at the bottom it said Patient carries C13368A polymorphism ND5. the counselor said she believed it was a normal variant.Anyone know of this genetic defect?thanks Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack.

[Guest guest]

A polymorphism by definition is considered to be a benign change in

DNA, not a disease-causing mutation. If you have the Summer 2003

issue of the UMDF newsletter, the feature article by Dr. Goldstein

explains the difference between disease-causing mutations and

polymorphisms. She says: " A mutation can be pathologic (causing

disease), or a polymorphism (a naturally occurring difference that

is thought to be benign.) "

I know about polymorphisms because I carry two in addition to my two

disease-causing mutations. The researchers who have worked on my

case say that in the presence of disease-causing mutations,

additional polymorphisms in the same gene may worsen the symptoms.

Alone, polymorphisms are thought to be harmless. However, they can

be used as markers to trace family genetic patterns. For example, my

father and son carry only one of the polymorphisms I have (they each

have at least one disease-causing mutation also) and it has been

suggested that because they each carry only one polymorphism, not

two, that this difference may explain why both of them are doing

better than I am health-wise.

B

> Hello everyone,

> I am hoping one of you has heard of this. I got results back on

my sons MT

> DNA blood work.

> It said it was negative for KSS, MELAS/MERFF, NARP but at the

bottom it said

> Patient carries C13368A polymorphism ND5. the counselor said she

believed it

> was a normal variant.

> Anyone know of this genetic defect?

> thanks