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.  Their website is really not as easy to navigate as it used to be and finding the raw data download can be tricky.  So here is a quick tutorial if anyone else is searching for their data on the 23andMe website. Why download your …

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, …

Increased Inflammation and IL-17A Polymorphisms

Inflammation (1)

In looking into the effects of emulsifiers on our gut, I came across quite a few genetic polymorphisms that are involved in increased inflammation and increased risk of inflammatory bowel diseases.  IL-17A is one of these pro-inflammatory gene polymorphisms. IL-17A is a pro-inflammatory part of our immune system that, while necessary in times of injury …

Microbiome, genetics, and emulsifiers = obesity

The connection between your genes, your gut health, and emulsifiers added to processed food.

Recently, I listened to an interview (from 2015) of a scientist who did a study on emulsifiers and found that they can lead to low grade inflammation in the gut, especially in mice with certain immune system genes knocked out.   Light bulbs started going off!  Time to dig into the published research to see if there …

Checking Your Carrier Status for Genetic Diseases

How to check your 23andMe or Ancestry data to see if you are a carrier for a rare genetic disease.

“Carrier status” for a genetic disease means that you are heterozygous (have one copy) for a mutation that causes a genetic disease.  Generally, these are the rare diseases that you would need two copies of the variant to have the disease. Take cystic fibrosis as an example…  the Cystic Fibrosis Foundation explains that “People with …

Vitamin C Levels and Your Genes

vitamin-cgenes

As the weather here turns colder, thoughts turn to preventing colds and the flu.  My “go to” method of preventing sickness has always been by loading up on vitamin C, even though recent studies haven’t really supported the idea that vitamin C increase immune function. At my house, if you have the sniffles it is …

Dyslexia – Genetic Connections

Genetics of Dyslexia

While dyslexia is known to run in families, the role of genetics in dyslexia is still being determined.  Here is a quick look at some of the genes thought to be involved in dyslexia, which affects around 10% of the population. Two of the genes (KIAA0319 and DCDC2) identified as probably playing a role in dyslexia …

Medium chain acyl-CoA dehydrogenase deficiency

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Medium-chain acyl-COA dehydrogenase (MCAD) deficiency is an “inborn error of metabolism” in which there is an impaired ability to break down medium-chain fatty acids.  In a nutshell, the body can use either glucose (through glycolysis) or fatty acids (through beta oxidation) to begin producing energy in the mitochondria.  MCAD deficiency affects the body’s ability to …

Short-chain Acyl-CoA Dehydrogenase Deficiency – Inborn Errors of Metabolism

Inborn errors of metabolism - SCADD

Inborn Errors of  Metabolism…  Scary sounding name for a group of different inherited disorders that affect a person’s ability to metabolize various foods or substances.  Most of these disorders are inherited as “autosomal recessive” meaning that a person needs to have two recessive alleles to have the disease. SCADD overview Short Chain Acyl-CoA Dehydrogenase Deficiency …