Hi all,
I have some homozygous mutations in 4 SNP's in the NDUFS7 gene but can't find out if it means I have a mitochondrial disease or not. The 4 in question are NDUFS7 rs1142530, rs7258846, rs11666067 and rs2074895.
NDUFS7 is NADH-ubiquinone oxidoreductase Fe-S protein 7, and is also called NADH-coenzyme Q reductase. It is 1 of over 40 subunits of the mitochondrial respiratory chain complex 1. Having mutations in this gene apparently causes Leigh Syndrome, a fatal childhood mitochondrial disease and Mitochondrial Complex 1 Deficiency (MT-C1D). I have looked up these diseases and they look very extreme and I am not as sick as the people with these diseases are, unless there are milder forms of MT-C1D.
I have had blood and urine metabolomic tests done at Nutrichem and it indicates mitochondrial problems and an abnormal Kreb's Cycle. I have done the 2 day CPET protocols and it indicated that I have an inability to produce energy properly and have abnormal lactic acid production, again indicating mitochondrial issues. I have had SPEC scans of my brain which show hypoperfusion. I have had TILT table testing with accompanying cardiac alpha and beta adrenergic sensitivity and activity testing. These showed that I have a decreased intrinsic heart rate, inability to achieve maximum target heart rate and a decreased alpha sensitivity test. I also have orthostatic hypotension. All of these could point to mitochondrial problems.
I know they suspect ( or do they know for sure?) mitochondrial problems in ME/CFS but where does one differentiate that from an actual mitochondrial disorder? Do I not have ME/CFS after all ?
Has anyone else doing 23and me had similar results? Please help.
I have some homozygous mutations in 4 SNP's in the NDUFS7 gene but can't find out if it means I have a mitochondrial disease or not. The 4 in question are NDUFS7 rs1142530, rs7258846, rs11666067 and rs2074895.
NDUFS7 is NADH-ubiquinone oxidoreductase Fe-S protein 7, and is also called NADH-coenzyme Q reductase. It is 1 of over 40 subunits of the mitochondrial respiratory chain complex 1. Having mutations in this gene apparently causes Leigh Syndrome, a fatal childhood mitochondrial disease and Mitochondrial Complex 1 Deficiency (MT-C1D). I have looked up these diseases and they look very extreme and I am not as sick as the people with these diseases are, unless there are milder forms of MT-C1D.
I have had blood and urine metabolomic tests done at Nutrichem and it indicates mitochondrial problems and an abnormal Kreb's Cycle. I have done the 2 day CPET protocols and it indicated that I have an inability to produce energy properly and have abnormal lactic acid production, again indicating mitochondrial issues. I have had SPEC scans of my brain which show hypoperfusion. I have had TILT table testing with accompanying cardiac alpha and beta adrenergic sensitivity and activity testing. These showed that I have a decreased intrinsic heart rate, inability to achieve maximum target heart rate and a decreased alpha sensitivity test. I also have orthostatic hypotension. All of these could point to mitochondrial problems.
I know they suspect ( or do they know for sure?) mitochondrial problems in ME/CFS but where does one differentiate that from an actual mitochondrial disorder? Do I not have ME/CFS after all ?
Has anyone else doing 23and me had similar results? Please help.