Acetyl Co-Enzyme A Acetyltransferase  – ACAT (ACAT1-02).

Although this mutation is fairly uncommon, however if you do have this mutation it can significantlyGene impact many areas of your health, including bile salt production, cholesterol, fatty acids, the processing of oxalates, the Energy Cycle (citric acid cycle) and mitochondrial function.

A person with health problems and with a homozygous or a heterozygous SNP has a high chance of expressing because of the impact of aluminum, heavy metals, and toxins as well as other dysfunctions if present because of NOS, MTHFR, & CBS.

This gene is involved in cholesterol and energy metabolism, helping to mediate the conversion of foodstuffs into biological energy. ACAT dysfunction may lead to B12 deficiency however an expressing ACAT can lead to increased levels of MMA (Methylmalonic Acid). Also, MMA may inhibit Succinate CoQ Reductase. The enzyme succinate CoQ Reductase is important in electron transport, so a mutation here could potentially affect the mitochondria.

ACAT regulates the lipid balance and fluidity in cell membranes, impacting neurological function. It mediates the accumulation of oxalates, which, in excess, can cause kidney stones.

ACAT along with and the gene SHMT are known as the “leaky gut genes”. Presence of these genes may cause a higher incidence of gut problems however one can still have leaky gut via many other avenues if this gene presents with no mutations.

Finally, if a chronically ill person has had heavy aluminum or other toxic exposures along with a partially functioning ACAT, energy production is likely to stall to a near standstill.

ACAT problems may include:
1. More B-12 depletion, which has ramifications throughout the entire system.
2. Cholesterol & fatty acid imbalances, often leading to toxic fatty acid buildup & high cholesterol.
3. Decreased bile salts and increased taurine production as well as poor cell wall function, since they all rely on the proper breakdown of cholesterol through the ACAT.
4. Poor breakdown of fats, carbohydrates, & proteins to fuel other cells, nerves, tissue, & organs.
5. Rising oxalate levels that may cause painful urination and bladder & kidney stones.
6. CoQ10 reduction, which is also necessary for mitochondrial function & energy.
7. Limited energy for the Waste Facility & SAM’s Corp. due to less conversion of methionine to SAMe. In having over 400 methylation functions, SAMe is critical for the entire community.

As the energy factories of each cell, mitochondrial damage has significant implications. In fact, anything that demands more energy, including the gut and the brain, are particularly vulnerable. Significant blocks may limit the availability of bile salts; hence the digestive process is doubly burdened. This provides a valid reason for many unexplained digestive problems, while explaining poor growth & development as well as failure to thrive. Well-studied toxins such as aluminum, lead, mercury, and MSG also greatly impact this factory. This is one reason those with known mitochondrial disorders are discouraged from eating foods with pesticides, MSG, and aluminum. Ultimately, anyone with multiple risk factors is especially prone to mitochondrial dysfunction.

ACAT, according to Dr.  Amy Yasko, is considered a first priority mutation (one that needs to be addressed first) when attempting to correct methylation.(1)