DHCR7 and Pregnenolone

After having CFS for most of my life (I'm 56), a doctor found I had total cholesterol of 106. She expressed concern over my diet, but I had a feeling there was more to it. I did a little research and found that anything below 160 is considered genetically caused. It was this, not methylation, which initially motivated me to get 23andME. After researching more I developed a hunch about the DHCR7 gene, which sits at the last step in cholesterol synthesis. Certain SNPs are disease causing in the etiology of Smith-Lemli-Opitz Syndrome. But several conditions seem to fall on a low cholesterol continuum.

Many SLOS patients have autism, and intellectual developmental issues. Autism patients who don't have SLOS also usually present with low cholesterol, but not as low. It is also often found in forms of mental illness, chronic infection, and CFS. I developed a hunch about one of a few DHCR7 SNPs and was right. Mine is homozygous on one of the SLOS SNPs which require other SNPs in a haplotype to manifest the condition. Although I don't have SLOS, I do have low cholesterol going back decades at least.

It was after that that we found I also have Lyme, which is manganese dependent. As manganese is also needed to synthesize cholesterol I'm guessing this contributed. Any chronic infection can drive down cholesterol, but I wonder if mutations in the DHCR7 is common among CFS patients?

Low cholesterol would contribute to low pregnenolone I presume, which would limit hormone synthesis and cortisol production. Pregnenolone also makes pregnenolone sulfate, which interacts directly with the TRPM genes - the subject of last year's findings on CFS related to ion channels. Interesting and curious. I would be interested if anyone else has mutations in DHCR7? I created a template on Livewello a while back. Not sure it's published however.


I have been diagnosed with lyme a few years back after being diagnosed prior with CFS. I also have low cholesterol. I am TRT and also take pregnenalone. When I first took pregnenalone I thought it helped me cognitively. The last lot I got was a different brand at higher strength and I am not noticing any benefit from it alas. I have not done genetic testing.
I take manganese supp. I dont know if this is a good or bad thing. It is an essential mineral and I feel I am making up for whatever lyme bacteria steal from me, rather than making lyme worse. There is pros + cons on both sides. Over the last few years I have been having more fats in my diet and I thought my cholesterol numbers had improved slightly. I am struggling with candida now after being on ABx on/of over last 3 yrs to try treat Lyme. I read a few articles recently on people who cured themselves of long term candida by cutting right back on fats/oils in their diet and having more carbs. I am going to try this as the no sugar low carbs high protein diet has not helped me.

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