AMPD1 Deficiency — Varying effects of the polymorphism

AMPD1 Deficiency

Adenosine Monophosphate deaminase is an enzyme coded for by the gene AMPD1 and acts in the skeletal muscles to convert AMP to IMP.  There is one common polymorphism, C34T, that causes a decrease in function of this enzyme.  It is heterozygous in 10% – 15% in Caucasians and Africans, while  ~ 1% are homozygous for …

Diet – Gene Interaction in Type 2 Diabetes Risk

T2DPufa

A new study just came out in the FASEB Journal that looked at the interaction between polyunsaturated fat and the Peroxisome Proliferator-Activated Receptor-γ Coactivator 1-α (PPARGC1A) gene.  The study found that those with the minor allele (C) of rs4235308 combined with a lower PUFA (polyunsaturated fatty acids) to saturated fat ratio cut their risk of type …

Pyruvate Dehydrogenase Deficiency – Mitochondrial disfunction

Pyruvate dehydrogenase is involved in the production of cellular energy in the mitochondria.  It acts as a catalyst in the conversion of pyruvate into acetyl-CoA, which is used in the citric acid cycle (Kreb’s cycle) in cellular respiration and production of ATP. So, it is pretty much essential, and deficiencies of pyruvate dehydrogenase can be …

Choline – An essential nutrient

Choline-An Essential Nutrient

I just finished listening to an interesting podcast featuring Dr. Zeisel, a researcher at the NC Nutrition Research Institute.  The interview discussed the body’s need for choline and the impact of some genetic polymorphisms on our ability to produce it in the body.  So I decided to dig into this a little more and look …

Building Up Iron – Genetics, Diet, and Health Effects

I have blogged before about hemochromatosis and the importance of checking your DNA results for the genetic variants that cause it, but I’m revisiting the topic today with updated research on the topic of iron overload. This is a personal cause for me, and getting the word out to as many people as possible is …

Review of Genos – Whole Exome Sequencing

Genos - Whole Exome Sequencing1

 Genos is a fairly new company in the direct-to-consumer genetic sequencing market.  They offer sequencing of the whole exome, instead of just the specific locations that are covered by services such as 23andMe or AncestryDNA. Moreover, they are bringing in research study partners that then will pay their clients for participating in the studies.  It is …

How our genes shape our gut microbiome and our weight

genes-gut-microbiome

Several studies have come out recently showing that those who are overweight have a different gut microbiome composition than those who are lean.  There have also been interesting mouse studies showing that transplanting feces from obese mice into lean mice causes the lean mice to become obese.  A 2010 study that found that supplementation with the probiotic Lactobacillus …

Thiamine – Genetic Variations in Need for B1

Thiamine

Thiamine (thiamin), also known as vitamin B1, is a water-soluble vitamin that serves as a cofactor in the metabolism of carbohydrates, branch chain amino acids, and fatty acids.  It is essential and needed in the production of ATP, which is used in every cell for energy. Severe deficiency of thiamin leads to beriberi, and less …

How to download your 23andMe data

How to download your raw data file from 23andMe

Someone asked me recently how to download their data from 23andMe.   So here is a quick tutorial if anyone else is searching for their raw data file on the 23andMe website. Why download your data? It is yours, and it may be something you need in the future.  23andMe could change their policy on …

Supplements for Methylation and More…

Reading the label on your supplements -- and getting rid of the surfactants.

I have ended up a cabinet full of bottles of all kinds of supplements!  Every time I learn about something new — methylfolate for MTHFR polymorphisms, hydroxycobalamin for MTRR polymorphisms, vitamin A because I don’t convert beta carotene, etc – off I go to order it from Amazon. My latest deep-dive into the world of emulsifiers, surfactants, …