Tuesday, September 20, 2011

Mitochondrial Mutations identified in Parathyroid Tumors

Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2099428/

I found an interesting medical study done on benign parathyroid tumors that had been removed. According to the study, a majority of tumors sampled contained mutation of the mitochondrial DNA, mostly of Complex 1.

The general theory for why is that the mutated mitochondrial DNA replicates like it does in every cell of the body. Only, in the parathyroid it begins to collect, bundle together, in a benign tumor. This happens very slowly, over a matter of years, just like how a mitochondrial disease will show itself in an adult.

Why am I so interested you ask?

Well, here is my intriguing question:

If the mutated mitochondrial DNA is collecting, building a tumor, in the parathyroid, is it possible that a person with a mitochondrial disease (ie: mutated mito DNA) can present with a parathyroid tumor?

In other words, is the mutated mito DNA selectively parathyroid in origin, causing just that tumor, and be limited to that one area or can it be directly related to an existing mitochondrial disease that is now presenting itself with replicated mutated mitochondrial DNA in the parathyroid?

Ok, so once again, why am I interested?? Well, in Feb 2010 I was diagnosed with a mitochondrial disease. Then in August 2010 I was found to have a parathyroid tumor. Hmmm. It just reeks of questions without answers.

So if I were able, here is how I would study that:
1. Find a large sample of patients with known mitochondrial DNA mutations.
2. Test that sample for hyperparathyroidism to identify people with potential tumors (hyperparathyroidism is almost always caused by benign parathyroid tumors).
3. Get imaging, referrals, etc to have the parathyroid tumors (if any) removed.
4. Have those extracted tumors tested for mitochondrial DNA mutations (as in this study above)
5. Determine if the mutation found in the parathyroid tumor is consistent with the known mitochondrial DNA mutation causing mitochondrial disease in the individual.
6. If they are one and the same, well, there's a whole new line of questions...

Now, I know there are probably a lot of holes in that research technique and theory, things that probably are not orthodox to medical research, but does that not sound like a practical way to go about it?

Just imagine, if parathyroid tumors could be potential red flags for mitochondrial disease, how many more adults could be identified and given hope?

Just food for thought.....

1 comment:

  1. I have diagnoses of systemic lupus with M.S. overlap, spasmodic torticollis (dystonia), Ehlers-Danlos Syndrome (classical form), presumptive neuroendocrine tumor disease, elevated parathyroid hormone levels, and now I am told that I most likely have mitochondrial disease. Wondered who else out there might have a similar combo of "rare" medical disorders. Malignant hyperthermia and Freidrich's Ataxia are running in the family as well as the Ehlers-Danlos.