Do you end up getting sore muscles after pretty much every workout at the gym? A deficiency caused by a genetic variant in the AMPD1 gene could be the cause. (Or you could be over-doing it :-)
This article digs into the AMPD1 gene and the research studies on how it affects exercise and athletic performance. Find out how to check your 23andMe or AncestryDNA data for the AMPD1 deficiency variant, and then learn about some options to deal with AMPD1 deficiency.
AMPD1 gene (Adenosine monophosphate deaminase):
Adenosine monophosphate deaminase is an enzyme coded for by the gene AMPD1, which acts in the skeletal muscles to convert AMP to IMP.
In a nutshell, this is an enzyme that your muscles use when they need to make a lot of ATP for energy, such as when you are exercising.
AMPD1 deficiency, also known as myoadenylate deaminase deficiency, has varying effects on exercise performance, heart attack response, and methotrexate (cancer drug) response.
It causes sore muscles and possibly muscle spasms when working out. On the plus side, AMPD1 deficiency may be protective against heart disease.[ref]
A common AMPD1 genetic variant, known as C34T, causes a decrease in the function of this enzyme for people with one copy of the variant (heterozygous AMPD1 deficiency). This causes about a 60 – 84% decrease in enzyme activity.[ref]
People with two copies of this variant have a non-functioning enzyme. Caucasian and African populations carry one copy of the variant at a frequency of about 10%. It is much less frequent in other population groups.
Research studies on AMPD1 deficiency:
- People with one copy (heterozygous) of the AMPD1 allele “require longer rest periods between bouts of weight training, require longer between sessions and have increased perceived pain post-training”.[ref]
- In a study of elite triathlon athletes, AMPD1 was found to be the only significant genetic factor that negatively impacted performance time.[ref]
- A study of Lithuanian athletes found that none of the athletes carry the AA genotype. Additionally, one copy of the variant likely affected anaerobic performance more than aerobic performance.[ref]
- A study of elite rowers also found that the A allele was found much less often in the group.[ref]
Rheumatoid arthritis / methotrexate studies:
- AMPD1 deficiency is associated with a good response to methotrexate in rheumatoid arthritis.[ref][ref]
- According to a 2015 study in a Malaysian population, AMPD1 polymorphisms may play a significant role in hypertension.[ref]
- A meta-study looked at the generally beneficial role of the AMPD1 polymorphism in heart disease. The study showed that people with the A allele (see below) are likely to have better cardiac function. [ref]
- Another study found that being heterozygous for the AMPD1 variant led to better prognosis in cardiovascular disease [ref]
AMPD1 Genetic Variant:
Check your genetic data for rs17602729 C34T (23andMe v4, v5; AncestryDNA):
Members: Your genotype for rs17602729 is —.
Lifehacks for AMPD1 deficiency:
Does AMPD1 deficiency mean that you can’t work out? Absolutely not. It just means that you may have more pain or muscle soreness than other people do. It’s just genetic – and doesn’t mean that you are a workout wuss :-)
Ribose has been suggested in several studies and in online forums for AMPD1 deficiency. It can be purchased online and at health food stores. It is a white powder and is a type of simple sugar. Some people with blood sugar regulation problems report having problems with hypoglycemia when taking it.[ref]
Related Genes and Articles:
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If you are at the top of your sport and looking to optimize, genetics does come into play with muscle composition and endurance.
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(originally published May 2017, revised and updated March. 2021)