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.
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.
In a little more detail: “AMPD1 codes for the skeletal muscle isoform of myoadenylate deaminase (MAD). MAD promotes the deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP).”[ref]
Symptoms of AMPD1 deficiency:
AMPD1 deficiency, also known as myoadenylate deaminase deficiency, has varying effects on exercise performance, heart attack response, and methotrexate (cancer drug) response.
AMPD1 causes sore muscles soon after a workout and sometimes muscle spasms when working out.[ref]
Prevalence of AMPD1 polymorphism:
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 and rarely seen in other population groups, such as Asians.
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 carried 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]
On the plus side, AMPD1 deficiency may be protective against heart disease.[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 AMPD1 polymorphism in heart disease. The study showed that people with the A allele (see below) likely had better cardiac function.[ref]
- Another study found that being heterozygous for the AMPD1 variant led to a better prognosis in cardiovascular disease.[ref]
AMPD1 Genotype Report:
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Check your genetic data for rs17602729 C34T (23andMe v4, v5; AncestryDNA):
- A/A: loss of function variation for AMP Deaminase (increased adenosine formation, muscle soreness in exercise, various other effects),[ref] but may have a benefit on cardiovascular function[ref]
- A/G: 50% reduction in AMP Deaminase function[ref]
- G/G: typical
Members: Your genotype for rs17602729 is —.
The rs17602729 variant is also known as C34T in studies. Reading through studies about this variant, you will see the risk allele listed as T (minus strand). This equates to “A” in 23andMe or AncestryDNA data.
Check out other Athletic Performance Genes such as ACTN3
Lifehacks: Solutions for AMPD1 deficiency
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(originally published May 2017, revised and updated March. 2021)