Enzyme deficiency

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Restricted detoxification

The human body has extremely effective strategies for getting rid of substances that could harm it. But it cannot dispose of every substance; some are stored in fatty tissue or other areas of the body, but overall, the organism works highly effectively to get rid of ›waste‹. However, there are genetic characteristics that can make this constant detoxification difficult. These include a deficiency of so-called glutathione S-transferases. These enzymes play a key role in ›neutralising‹ environmental toxins and medications, minimising oxidative damage, cell stress and DNA damage.

Many people are genetically lacking one of these enzymes from birth. Experts refer to these as null genotypes. They have, for example, a GSTM1 or GSTT1 deletion. These types are so common that they are referred to as polymorphisms rather than rare genetic disorders. But what is the problem?

If just one gene that codes for one of the glutathione S-transferases fails, the risk of certain diseases increases slightly. The GSTM1 null genotype increases the risk of lung and bladder cancer, Parkinson's disease and Alzheimer's disease. The types of cancer mentioned also occur more frequently in people with the GSTT1 null genotype. However, these groups of people do not necessarily have to notice symptoms in their lives that indicate they have a specific genetic variant that limits the body's ability to eliminate waste.

Symptoms are more likely to occur in the case of a so-called ‘double null’, i.e. when both GSTM1 and GSTT1 are missing. Those affected suffer significantly more oxidative cell damage. Whether null or double null, the genetic variants exist from the beginning; they do not arise from a spontaneous mutation in the course of life. However, possible symptoms may only appear in later life, when the body's protective and cleansing mechanisms are declining anyway.

Symptoms include sensitivity to chemicals and medications, frequent infections, chronic inflammatory processes, and persistent fatigue and exhaustion, as well as brain fog, irritability, anxiety, and depressive moods. In this context, researchers are also interested in whether people with Long Covid or those who have developed myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) as a result of an infection are more likely to be those who lack one or more of the genes for glutathione S-transferases.

Studies show that lymphocytes in particular suffer from permanently elevated oxidative stress in people with Long Covid or ME/CFS. This produces more free radicals than the body's detoxification system can cope with. A glutathione S-transferase deficiency, in combination with viral infections and/or environmental factors, can overload and exhaust glutathione, the most important ‘detoxifier’. If there is a deficiency, strong inflammatory reactions gain the upper hand. These reactions can lead to long Covid or ME/CFS.

Unfortunately, there is no proven effective treatment for glutathione S-transferase deficiency. Genetic testing for these variants in the genome is therefore controversial among medical professionals. The results would not necessarily be beneficial to the physicians involved because there are so many carriers of these genetic variants and they are only one of several possible reasons why a person exhibits the above-mentioned symptoms. However, doctors may consider testing if a patient is chronically lacking energy and drive, is on the contrary constantly tired, has chronic inflammation and frequent infections that suggest an immune deficiency, and consistently sleeps poorly.