Are you trying to get more information on thiamine deficiency and whether or not it's affecting some of your health problems? In this video, we're going to look at some of the signs and symptoms of thiamine deficiency, as well as the potential genetics causing thiamine deficiency.

in this video, we're going to look at some of the causes and genetics causing thiamine deficiency. Thiamine deficiency is quite rare in the United States. The National Institutes of Health estimates that only about 1 percent of adults in the U.S. have thiamine deficiency. However, some people have a subclinical thiamine deficiency, which is less reported on and more difficult to diagnose and test.

So really, what we want to do is look at how many people can potentially get health improvement from thiamine.

There are certainly groups of people that are more at risk for thiamine deficiency, including:People with alcoholism or those who just consume alcohol on a regular basis, Older adults due to poor absorption, People with HIV and AIDS, who can sometimes have issues with absorption, People taking medications that can interfere with thiamine absorption, People with diabetes or who consume high amounts of carbohydrates, People who have had bariatric surgery, depending on the type of surgery they had, Another area to look at that may affect your need for more thiamine is your genetics, the genetics around thiamine absorption and utilization. There are some genetic alterations that may cause one to need to test for thiamine or be more suspicious of a thiamine deficiency.

Now, let's look at how thiamine is used in the body first and then go into some of the genetics, which have a connection to how it's used. Thiamine is transported into the cell via thiamine transporters. They're referred to as THTR1 and THTR2, and they're encoded by two different genes, SLC19A2 and SLC19A3. Both of these genes can be mutated, which can cause known negative impacts. They can also be polymorphic, which means that they have multiple forms, and this may cause a more common, but also increased need for thiamine.
So once the thiamine is absorbed into the body, it is then converted into its active cofactor, referred to as thiamine pyrophosphate or TPP for short. The active form is formed inside the cell by the enzyme thiamine pyrophosphokinase, also abbreviated TPK1. This enzyme, the TPK1 enzyme gene, can also be polymorphic and be mutated as well.

Just as an aside, I'm using those two terms separately. Polymorphism is usually something that occurs in the population in a broader sense. A lot of people may have it, or it's more common. It could still lead to significant changes in how our bodies process things, but usually not as detrimental as the mutated forms of genetic alterations.

So once the TPP is formed, that active form of thiamine, it enters into the mitochondria to do some specific actions. And that TPP needs to be transported on a transporter molecule, and that is called TPP transporter. The TPP transporter is encoded by another gene called SLC25A19.

And it carries the thiamine, the active form of the thiamine, into the mitochondria where it can be used in the Krebs cycle and other functions where it helps with the breakdown of energy sources, turning those energy sources into actual energy. So that thiamine transporter can also be mutated or have polymorphic aspects to it as well. So there's three main areas that can be genetically altered and lead to an increased need for thiamine at the level of:
Absorption from the digestive tract into the body, Turning into the active form, Getting it into the mitochondria, So these three different genes are called SLC 19A2, SLC 19A3, and TPK1. The transporter of the active form is called SLC25A19.
Each of these different alterations are associated with inborn errors of metabolism, which is a major problem. For instance, the SLC 19A2 defects in childhood will result in basal ganglion disease.
And as with a lot of these thiamine deficiencies and genetic alterations, they're going to affect the nervous system a lot. So people may experience encephalopathy, coma, epilepsy, and generalized dystonia. The classic form of this is referred to as Leigh's syndrome. Adult presentations can occur and will present more like Wernicke's encephalopathy, which is caused by ongoing chronic alcoholism.

In this case, it's just ongoing chronic thiamine deficiency and can also result in encephalopathy, such as lack of balance, coordination problems, and trouble walking. You can also see it having major impacts on cognitive function, alertness, and general mobility. Because thiamine is essential for energy production, and the brain and the nervous system need a lot of energy, this is a common place where symptoms are going to show up and manifest.