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Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic imbalance and clinical disease. However, reality has never been quite that simple, and the classic...

In this study, the authors reported that "those with ME/CFS have fewer mildly deleterious [mitochondrial DNA] variants than controls". One of the possible interpretations of this is that those with deleterious mtDNA variants are more likely to be removed from the category of ME/CFS (for example...

https://bcmj.org/articles/mitochondrial-disease-clinical-manifestations-overview This has some comments on adult-onset mitochondrial disease which is relevant to ME/CFS in my opinion. The authors say that: Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age...

If one were to measure the harm and costs caused by neglecting sick people at the level of whole society, it might end up costing more than what is saved. But nobody has done this kind of calculation I think. Neglecting sick people soon results in the sick becoming very sick and needing even...

We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated that clinical disease can result from heterozygous mutations in more than one gene in single or related metabolic pathways. Mice with combinations of...

Inborn errors of metabolism show considerable variation in the severity of symptoms. This is often ascribed to the differential effects of specific muta- tions on gene/enzyme function; however, such geno- type/phenotype correlations are usually imprecise. In addition, in some patients with...

I bought a month of access to an online tool that can do "gene panels". It is called gene.iobio

Small update on the fatty acid oxidation mutation. After applying a healthy dose of skepticism and doing some research, I think this a genuine finding, with a real impact on enzyme activity (I found a paper with a patient that had the same kind of heterozygous mutation where enzyme activity was...

I also have a "likely pathogenic" variant expected to cause a nonfunctional protein in a gene involved in fatty acid oxidation, for which no population frequency data exists, and which has no entry on ClinVar. Sounds promising. PS: but the associated disease has an autosomal-recessive...

I have access to my own raw data and am looking through it slowly. One of the interesting findings so far is a series of mutations in the HLA-DQB1 gene, and one in the HLA-DRB1 gene which are all associated with increased risk for multiple sclerosis. PS: also many variants in HLA-DQA1. I also...

It was similar for me. I didn't have as much contact with the healthcare system early on due to a slow and insidious illness onset but still received the mistreatment by family members (two of which are doctors) and teachers. The MUS and CBT model of ME is just the same dumb prejudice carried...

Sounds great. The patients are expected to need treatment every 10 years or so (nobody knows for sure). So quite not a cure, more like a really good, low maintenance treatment.

I can see the validity of both arguments here. There are some ugly and rarely opened expressed prejudices ingrained in the medical and research system. It's the only explanation that makes sense because otherwise the observed behaviour cannot be explained. What we hear often, that there are no...

Maybe it's more that they must invent new reasons for their own professional existence? As far as I'm concerned the ancient Greeks had human nature mostly figured out already.

I have this now. My brain feels chronically undersupplied with blood, and spending time upright makes it worse. While lying down it's not a strong effect but noticable.

Worse than I imagined.

I have a feeling that this LP study could go badly due to recruitment process. If I understood right the patients will be referred by the government agency responsible for welfare payments to sick people. These patients might feel like they have no choice but go along with the process, including...

I clearly remember that Ron Davis some years ago said they were seeing high levels of lipids in cells in one of the experiments they did. Maybe in connection with cells being lighter? Accumulation of lipids is something that can happen when the peroxisomes are not working well.

Is the peroxysomal dysfunction sufficient to cause accumulation of certain fatty acids? If yes, that would make reduction of fat intake or some kinds of fats a potentially useful treatment.