ItsNotNotLupus4 karma2015-11-03 16:25:31 UTC
Along the same lines, do you have any other chronic issues like diabetes, migraines, or cardiomyopathy?
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ItsNotNotLupus2 karma2015-11-03 16:10:07 UTC
With mitochondrial diseases, knowing the specific mutation still does not give a very accurate prognosis. If the mutation occurred in the mitochondrial DNA, each individual cell will have a portion of mutated/diseased mitochondria and the rest will be normal, but it is almost impossible to tell what the ratio is (this is called heteroplasmy). The ratio of abnormal:normal mitochondria also varies from tissue to tissue, and this ratio affects the severity of disease in that specific tissue. So, people with the same mutation can have symptoms that look very different. The main goals of genetic testing are to determine the likelihood of recurrence for any other children the parents may have and the likelihood of the patient passing on the disease to his/her offspring.
Source: I am a med student and we literally covered this topic just last week.
ItsNotNotLupus2 karma2015-11-03 16:21:34 UTC
It sounds like the disorder you have is an X-linked recessive disorder, so a gene in your sister's X chromosome (that was also in your mother's X chromosome) has a mutation for a protein that is used somewhere in the mitochondria. From what I know, mitochondrial donation (if it's the whole 3-parent thing) only helps in cases where the mitochondrial mutation occurs in the mitochondrial DNA. Is there some other method you are talking about that would help prevent the passage of the genomic mutation? If so, that's amazing and I would like to learn more about it
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