Limits...
Effect of isolated AMP deaminase deficiency on skeletal muscle function ☆

View Article: PubMed Central - PubMed

ABSTRACT

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.

No MeSH data available.


Related in: MedlinePlus

Assessment of metabolites in muscles of wild-type (Wt) and A1(−/−) mice after treadmill exercise. A: Lactate in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ). B: NH3 in muscles before and after exercise under ischemia (n = 3 for wild type, n = 6 for AMPD1 ). C: adenosine production in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ).
© Copyright Policy - CC BY-NC-SA
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC5121310&req=5

f0020: Assessment of metabolites in muscles of wild-type (Wt) and A1(−/−) mice after treadmill exercise. A: Lactate in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ). B: NH3 in muscles before and after exercise under ischemia (n = 3 for wild type, n = 6 for AMPD1 ). C: adenosine production in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ).

Mentions: Lactate production was measured after sprint exercise under non-ischemic or ischemic conditions (Fig. 4A). A1(−/−) mice exhibited no differences as compared to the wild-type mice with regard to lactate production. In contrast, NH3 accumulation in the gastrocnemius muscle was abolished after exercise in the AMPD1 knockout animals (Fig. 4B). In addition, adenosine production was increased significantly in the A1(−/−) gastrocnemius muscle following exercise under ischemic conditions (Fig. 4C).


Effect of isolated AMP deaminase deficiency on skeletal muscle function ☆
Assessment of metabolites in muscles of wild-type (Wt) and A1(−/−) mice after treadmill exercise. A: Lactate in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ). B: NH3 in muscles before and after exercise under ischemia (n = 3 for wild type, n = 6 for AMPD1 ). C: adenosine production in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ).
© Copyright Policy - CC BY-NC-SA
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121310&req=5

f0020: Assessment of metabolites in muscles of wild-type (Wt) and A1(−/−) mice after treadmill exercise. A: Lactate in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ). B: NH3 in muscles before and after exercise under ischemia (n = 3 for wild type, n = 6 for AMPD1 ). C: adenosine production in muscles before and after exercise under ischemia (n = 3 for wild type, n = 5 for AMPD1 ).
Mentions: Lactate production was measured after sprint exercise under non-ischemic or ischemic conditions (Fig. 4A). A1(−/−) mice exhibited no differences as compared to the wild-type mice with regard to lactate production. In contrast, NH3 accumulation in the gastrocnemius muscle was abolished after exercise in the AMPD1 knockout animals (Fig. 4B). In addition, adenosine production was increased significantly in the A1(−/−) gastrocnemius muscle following exercise under ischemic conditions (Fig. 4C).

View Article: PubMed Central - PubMed

ABSTRACT

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.

No MeSH data available.


Related in: MedlinePlus