Mitochondrial Disease Testing Update

Image from the Muscular Dystrophy Association

This year I have been on a mission to get answers. 

My journey lead me to a rheumatologist who noticed unusual muscle weakness and suggested I see a neurologist (see It's not Lupus, but...).

I then found my way to a wonderful neurologist who specializes in neuromuscular diseases who confirmed my weakness and ordered a battery of tests (EMG, muscle biopsy, blood work, etc.).  This doctor has seen CFS/ME patients before and does not usually detect the types of muscle problems I have in them.  I then got in to see a mitochondrial disease specialist who has been working with my neurologist, suggesting particular tests and vitamins/supplements. 

Read my February, March, and April blog entries to catch up on the full story.

Last month I received my first set of mitochondrial disease testing results. It's taken so long to get results because I asked that they postpone the testing until we could better afford it. 

The tests done on my muscle biopsy sample were a mitochondrial DNA (mtDNA) analysis and a Mitochondrial Respiratory Chain Enzyme (ETC) analysis. It's my understanding that not many labs in the country perform these specialized tests.

My mtDNA analysis did not show anything of clinical significance. However, my Mitochondrial Respiratory Chain Enzyme (ETC) analysis results were abnormal. From the lab report:

A deficiency was detected in rotenone sensitive complex I+III, which meets major criterion of the modified Walker criteria for the diagnosis of a respiratory chain disorder. A reduction in complex II+III activity was also observed, but not sufficiently reduced to satisfy a diagnostic criterion of mitochondrial respiratory chain disorder. Reduced activities in complex I+III and complex II+III may suggest a CoQ10 deficiency. Mitochondrial electron transport chain disorders may be caused by molecular defects in nuclear or mitochondrial genes.

I hope the image at the top helps make this scientific jargon a bit easier to understand.  The mitochondrial disease expert I saw felt these results merited further testing. Additional muscle tissue has been sent to the lab for them to do a testing for CoQ10 deficiency.  I am also going to have a nuclear DNA (nDNA) analysis done.

I am too tired to explain the significance of these different types of tests, but here are a couple of websites that might help a little:

What Causes Mitochondrial Diseases
Mitochondrial Disorder Medical Information

Time for bed!