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Normal Function
The AMPD1 gene provides instructions for producing an enzyme called adenosine monophosphate (AMP) deaminase. This enzyme is found in the muscles used for movement (skeletal muscles), where it plays a role in producing energy. Specifically, during physical activity, this enzyme converts a molecule called adenosine monophosphate (AMP) to a molecule called inosine monophosphate (IMP) as part of a process called the purine nucleotide cycle. This cycle reuses molecules called purines, which are a group of building blocks of DNA (nucleotides), its chemical cousin RNA, and molecules such as AMP that serve as energy sources in the cell. As part of the purine nucleotide cycle, AMP deaminase converts AMP to IMP, and as the cycle continues, molecules are produced that the muscle cells can use for energy. Skeletal muscle cells need energy to function and move the body.
Health Conditions Related to Genetic Changes
Adenosine monophosphate deaminase deficiency
At least nine mutations in the AMPD1 gene have been found to cause AMP deaminase deficiency. This condition is characterized by skeletal muscle pain or weakness after exercise or prolonged physical activity (exercise intolerance). Most cases are caused by a mutation that results in a premature stop signal in the instructions for making AMP deaminase (written as Gly12Ter or Q12X). The resulting enzyme is abnormally short and nonfunctional and cannot participate in the purine nucleotide cycle. As a result, the process stalls and energy production in skeletal muscle cells is decreased. Skeletal muscles are particularly sensitive to decreases in energy during periods of exercise or increased activity when energy demands increase. The lack of AMP deaminase as a source of energy production can result in fatigue and muscle weakness or pain in some people with AMP deaminase deficiency.
It is not known why some people with this condition do not experience symptoms. Researchers speculate that additional factors, both genetic and environmental, may determine whether a person develops the signs and symptoms of AMP deaminase deficiency.
More About This Health ConditionOther Names for This Gene
- Adenosine monophosphate deaminase-1 (muscle)
- AMP deaminase
- AMPD1_HUMAN
- MAD
- MADA
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Hancock CR, Brault JJ, Terjung RL. Protecting the cellular energy state during contractions: role of AMP deaminase. J Physiol Pharmacol. 2006 Nov;57 Suppl 10:17-29. Citation on PubMed
- Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab. 2005 Sep-Oct;86(1-2):250-6. doi: 10.1016/j.ymgme.2005.06.002. Epub 2005 Jul 22. Citation on PubMed
- Teijeira S, San Millan B, Fernandez JM, Rivas E, Vieitez I, Miranda S, Gonzalez F, Navarro C. Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. Clin Neuropathol. 2009 Mar-Apr;28(2):136-42. doi: 10.5414/npp28136. Citation on PubMed
- Toyama K, Morisaki H, Kitamura Y, Gross M, Tamura T, Nakahori Y, Vance JM, Speer M, Kamatani N, Morisaki T. Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet. 2004 Jun;41(6):e74. doi: 10.1136/jmg.2003.013151. No abstract available. Erratum In: J Med Genet. 2005 Mar;42(3):288. Citation on PubMed or Free article on PubMed Central
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